Genome Sequencing Technologies Research Articles

A multi-label learning framework for predicting antibiotic resistance genes via dual-view modeling.

The increasing prevalence of antibiotic resistance has become a global health crisis. For the purpose of safety regulation, it is of high importance to identify antibiotic resistance genes (ARGs) in bacteria. Although culture-based methods can identify ARGs relatively more accurately, the identifying process is time-consuming and specialized knowledge is required. With the rapid development of whole genome sequencing technology, researchers attempt to identify ARGs by computing sequence similarity from public databases. However, these computational methods might fail to detect ARGs due to the low sequence identity to known ARGs. Moreover, existing methods cannot effectively address the issue of multidrug resistance prediction for ARGs, which is a great challenge to clinical treatments. To address the challenges, we propose an end-to-end multi-label learning framework for predicting ARGs. More specifically, the task of ARGs prediction is modeled as a problem of multi-label learning, and a deep neural network-based end-to-end framework is proposed, in which a specific loss function is introduced to employ the advantage of multi-label learning for ARGs prediction. In addition, a dual-view modeling mechanism is employed to make full use of the semantic associations among two views of ARGs, i.e. sequence-based information and structure-based information. Extensive experiments are conducted on publicly available data, and experimental results demonstrate the effectiveness of the proposed framework on the task of ARGs prediction.

Quantifying and Cataloguing Unknown Sequences within Human Microbiomes.

ABSTRACTAdvances in genome sequencing technologies and lower costs have enabled the exploration of a multitude of known and novel environments and microbiomes. This has led to an exponential growth in the raw sequence data that are deposited in online repositories. Metagenomic and metatranscriptomic data sets are typically analysed with regard to a specific biological question. However, it is widely acknowledged that these data sets are comprised of a proportion of sequences that bear no similarity to any currently known biological sequence, and this so-called “dark matter” is often excluded from downstream analyses. In this study, a systematic framework was developed to assemble, identify, and measure the proportion of unknown sequences present in distinct human microbiomes. This framework was applied to 40 distinct studies, comprising 963 samples, and covering 10 different human microbiomes including fecal, oral, lung, skin, and circulatory system microbiomes. We found that while the human microbiome is one of the most extensively studied, on average 2% of assembled sequences have not yet been taxonomically defined. However, this proportion varied extensively among different microbiomes and was as high as 25% for skin and oral microbiomes that have more interactions with the environment. A rate of taxonomic characterization of 1.64% of unknown sequences being characterized per month was calculated from these taxonomically unknown sequences discovered in this study. A cross-study comparison led to the identification of similar unknown sequences in different samples and/or microbiomes. Both our computational framework and the novel unknown sequences produced are publicly available for future cross-referencing. Our approach led to the discovery of several novel viral genomes that bear no similarity to sequences in the public databases. Some of these are widespread as they have been found in different microbiomes and studies. Hence, our study illustrates how the systematic characterization of unknown sequences can help the discovery of novel microbes, and we call on the research community to systematically collate and share the unknown sequences from metagenomic studies to increase the rate at which the unknown sequence space can be classified.

EP431: Applying the clinician-reported genetic testing utility InDEx (C-GUIDE) to genome sequencing

Genome sequencing (GS) technology currently outperforms other testing modalities for establishing a genetic diagnosis in patients with rare diseases, but access remains limited while payors seek evidence demonstrating appropriate indications, utility, and value to justify the expense. The previously published Clinician-reported Genetic testing Utility InDEx (C-GUIDE) was developed to capture the informational value of genetic testing from a clinician’s perspective and was validated in a cohort of patients who received microarray, single-gene, or multi-gene panels, but had not yet been studied in the context of GS.

OP056: ScreenPlus pilot newborn screening: recruitment and engagement findings from the first 300 consented infants

OP056: ScreenPlus pilot newborn screening: recruitment and engagement findings from the first 300 consented infants

Drug-resistant tuberculosis: advances in diagnosis and management.

Purpose of reviewDiagnosis and treatment of drug-resistant tuberculosis (DR-TB) is undergoing substantial changes, owing availability of new diagnostic tools and drugs, coupled with global underdiagnosis and undertreatment. Recent developments are reviewed.Recent findingsMolecular diagnostics, for Mycobacterium tuberculosis complex detection and prediction of drug resistance, implemented in the last decade, accelerated TB diagnosis with improved case detection. Nevertheless, access and coverage of drug-resistance testing remain insufficient. Genome sequencing-technologies, based on targeted next-generation sequencing show early potential to mitigate some of the challenges in the future. The recommendation to use an all oral, bedaquiline based regimen for treatment of multidrug-resistant/rifampicin-resistant TB is major advancement in DR-TB care. TB regimen using new and repurposed TB drugs demonstrate in recent clinical trials like, NIX-TB, ZeNIX and TB PRACTECAL considerable treatment success, shorten treatment duration and reduce toxicity. Their optimal use is threatened by the rapid occurrence and spread of strains, resistant to new drugs. Children benefit only very slowly from the progress.SummaryThere is notable progress in improved diagnosis and treatment of drug-resistant TB, but complicated by the COVID-19 pandemic the majority of TB patients worldwide don’t have (yet) access to the advances.

New Approaches to an Old Problem: Dollar Spot of Turfgrass.

Dollar spot, caused by fungal pathogens Clarireedia spp. (formerly Sclerotinia homoeocarpa), is the most common and widely distributed disease of turfgrass worldwide. It can drastically reduce the quality of turfgrass species and affect their aesthetic value and playability. Management of dollar spot typically includes a costly program of multiple application of fungicides within a growing season. Consequently, there have been reported cases of fungicide resistance in populations of Clarireedia spp. Host resistance could be an important component of dollar spot management; however, this approach has been hampered by the lack of sources of resistance because nearly all known warm- and cool-season turfgrass species are susceptible. With the recent advancement in genome sequencing technologies, studies on pathogen genomics and host-pathogen interactions are emerging with the hope of revealing candidate resistance genes in turfgrass and genes for virulence and pathogenicity in Clarireedia spp. Large-scale screening of turfgrass germplasm and quantitative trait locus (QTL) analysis for dollar spot resistance are important for resistance breeding, but only a handful of such studies have been conducted to date. This review summarizes currently available information on the dollar spot pathosystem, taxonomy, pathogen genomics, host-pathogen interaction, genetics of resistance, and QTL mapping and also provides some thoughts for future research prospects to better manage this disease.

IAGS: Inferring Ancestor Genome Structure under a Wide Range of Evolutionary Scenarios.

Significant improvements in genome sequencing and assembly technology have led to increasing numbers of high-quality genomes, revealing complex evolutionary scenarios such as multiple whole-genome duplication events, which hinders ancestral genome reconstruction via the currently available computational frameworks. Here, we present the Inferring Ancestor Genome Structure (IAGS) framework, a novel block/endpoint matching optimization strategy with single-cut-or-join distance, to allow ancestral genome reconstruction under both simple (single-copy ancestor) and complex (multicopy ancestor) scenarios. We evaluated IAGS with two simulated data sets and applied it to four different real evolutionary scenarios to demonstrate its performance and general applicability. IAGS is available at https://github.com/xjtu-omics/IAGS.

Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.

BackgroundGenetic disorders contribute to significant morbidity and mortality in critically ill newborns. Despite advances in genome sequencing technologies, a majority of neonatal cases remain unsolved. Complex structural variants (SVs) often elude conventional genome sequencing variant calling pipelines and will explain a portion of these unsolved cases.MethodsAs part of the Utah NeoSeq project, we used a research‐based, rapid whole‐genome sequencing (WGS) protocol to investigate the genomic etiology for a newborn with a left‐sided congenital diaphragmatic hernia (CDH) and cardiac malformations, whose mother also had a history of CDH and atrial septal defect.ResultsUsing both a novel, alignment‐free and traditional alignment‐based variant callers, we identified a maternally inherited complex SV on chromosome 8, consisting of an inversion flanked by deletions. This complex inversion, further confirmed using orthogonal molecular techniques, disrupts the ZFPM2 gene, which is associated with both CDH and various congenital heart defects.ConclusionsOur results demonstrate that complex structural events, which often are unidentifiable or not reported by clinically validated testing procedures, can be discovered and accurately characterized with conventional, short‐read sequencing and underscore the utility of WGS as a first‐line diagnostic tool.

Evolution of the dorsoventral axis in insects: the changing role of Bone Morphogenetic Proteins.

Embryonic dorsal-ventral (DV) patterning by Bone Morphogenetic Proteins (BMPs) is a conserved feature of Bilateria, based on graded BMP activity set up by diffusible BMP ligands and Chordin/Sog antagonists. In the fly Drosophila melanogaster BMP function is secondary to patterning by the Toll pathway, suggesting a more restricted role for BMPs in insects. With widespread genome sequencing technologies allied to functional analysis in a growing number of species, recent work has shown that BMP's role in DV patterning relative to Toll varies among insect orders. Further, the role of BMP antagonists to set up BMP gradients is also greatly diversified. Here we review the recent findings concerning the role of BMP in the DV patterning of insects and address the potential aspects that may have co-evolved with BMPs to attain this functional divergence.

Review of genome sequencing technologies in molecular characterization of influenza A viruses in swine.

The rapidly evolving antigenic diversity of influenza A virus (IAV) genomes in swine makes it imperative to detect emerging novel strains and track their circulation. We analyzed in our review the sequencing technologies used for subtyping and characterizing swine IAV genomes. Google Scholar, PubMed, and International Nucleotide Sequence Database Collaboration (INSDC) database searches identified 216 studies that have utilized Sanger, second-, and third-generation sequencing techniques to subtype and characterize swine IAV genomes up to 31 March 2021. Sanger dideoxy sequencing was by far the most widely used sequencing technique for generating either full-length (43.0%) or partial (31.0%) IAV genomes in swine globally; however, in the last decade, other sequencing platforms such as Illumina have emerged as serious competitors for the generation of whole-genome sequences of swine IAVs. Although partial HA and NA gene sequences were sufficient to determine swine IAV subtypes, whole-genome sequences were critical for determining reassortments and identifying unusual or less frequently occurring IAV subtypes. The combination of Sanger and second-generation sequencing technologies also greatly improved swine IAV characterization. In addition, the rapidly evolving third-generation sequencing platform, MinION, appears promising for on-site, real-time sequencing of complete swine IAV genomes. With a higher raw read accuracy, the use of the MinION could enhance the scalability of swine IAV testing in the field and strengthen the swine IAV disease outbreak response.

Study of the genus Torreya (Taxaceae) based on chloroplast genomes.

Species of the genus Torreya are similar in morphology, and their morphological taxonomic characteristics are not stable because of environmentally induced changes. Therefore, morphology is insufficient for understanding their relationships. Chloroplast genome sequencing technology provides a powerful tool for molecular analysis to get more infomation for classification and identification of Torreya genus. A total of 4 chloroplast genome of Torreya, including T. Parvifolia, T. nucifera, T. fargesii var. Yunnanensis and T. grandis var. jiulongshanensis, were sequenced and annotated. Campartive genome and phylogenetic tree were provided for variation analysis. The chloroplast genome size of the four samples is about 137 kb, the inverted repeat (IR) regions are identified in the genus Torreya. Genome comparison using mVISTA showed high sequence similarity among different species. Regions with divergence in exon regions include accD, ndhB, ndhF, psbA, psbJ, rpl2, rps3, rps16, rps18, ycf1, and ycf2. The phylogenetic tree based on 73 single-copy genes showed a clearer relationships among different species of Torreya. All genomes of the four Torreya species consist of two short IR regions, and results of the phylogenetic analysis concluded that T. parvifolia should be considered as T. fargesii var. yunnanensis or treated as a sister species. T. grandis var. jiulongshanensis should be treated as a variety of T. grandis according to molecular evidence, supporting the originally published proposal.

Microbiome and Metagenome Signatures: The Potential Toolkit for Futuristic Forensic Investigations

Advancements in genome sequencing technologies, improvements in microbial sampling methods and recent approaches in bioinformatics have driven the rise in microbiomics and metagenomics. Diverse ranges of microbial communities are hosted by human bodies which interact with its environment and cause change in it. Human and environmental microbial profiles can be extracted and analyzed to get information of these interactions and they are likely to be applicable in forensics. In this review we explain microbiome and metagenomics with emphasis on its application in forensics and for identification purposes, and factors affecting the microbiome diversity in the light of previous studies. No doubt this field is still in its beginning but the use of microbiomics and metagenomics signature for this purpose has potential to increase the forensic toolkit. Most of time, studies have been affected by sample size limitation and model accuracies which leads to less exploration of the complete potential of microbiomics in forensics. Furthermore, currently the information obtained from microbial forensics is not considered in dubious by the law enforcement agencies. However, extensive research is needed to overcome these challenges to make evidences based on microbiome served to futuristic revolutionary forensic investigations.

Japanese Regulatory Framework and Approach for Genome-edited Foods Based on Latest Scientific Findings.

The food supply system is facing important challenges and its sustainability has to be considered. Genome-editing technology, which accelerates the development of new variety, could be used to achieve sustainable development goals, thereby protecting the environment and ensuring the stable production of food for an increasing global population. The most widely used genome-editing tool, CRISPR/Cas9, is easy to use, affordable, and versatile. Foods produced by genome-editing technologies have been developed worldwide to create novel traits. In the first half of the review, the latest scientific findings on genome-editing technologies are summarized, and the technical challenge in genome sequence analysis are clarified. CRISPR/Cas9 has versatile alternative techniques, such as base editor and prime editor. Genome sequencing technology has developed rapidly in recent years. However, it is still difficult to detect large deletions and structural variations. Long-read sequencing technology would solve this challenge. In the second part, regulatory framework and approach for genome-edited foods is introduced. The four government ministries, including the Ministry of Environment, the Ministry of Agriculture, Forestry and Fisheries, and the Ministry of Health, Labour and Welfare (MHLW), started to discuss how the regulation should be implemented in 2019. The SDN-1 technique is excluded from the current genetically modified organism (GMO) regulation. The Japanese regulatory framework includes pre-submission consultation and submission of notification form. In the last part of this review, transparency of regulatory framework and consumer confidence were described. Since maintaining consumer trust is vital, transparency of regulatory framework is a key to consumers. The information of notification process on approved genome-edited foods is made public immediately. This review will help regulators build regulatory frameworks, and lead to harmonization of the framework between the countries.

Genome analysis-based studies on bacterial genetic diversity

There are a huge number of bacterial species on earth, and a huge intra-species genomic diversity are also observed in many bacteria. The high ability of bacteria to acquire foreign DNA and the presence of various mobile genetic elements contribute the generation of such genomic diversity. During the biochemical and genetic analysis of a Pseudomonas aeruginosa toxin, called cytotoxin, and its converting phage, which I first engaged in my research carrier, I became very interested in the genetic diversity of bacteria and mobile genetic elements such as bacteriophages, and realized the usefulness and power of genome analysis. Since then, I have been involved in genome analyses of various pathogenic bacteria such as enterohemorrhagic Escherichia coli (EHEC), commensal bacteria of human and other animals, and bacteria or bacterial communities in natural environments. I was so lucky that I jumped in this research field at the very begging of genome analyses and experienced a very exciting time of surprisingly rapid advance in genome sequencing technologies which revolutionized a wide range of biology. In this article, I first review the main findings which our group obtained from the genome analyses on the P. aeruginosa cytotoxin converting phage and those on the evolution and genomic diversity of EHEC and related bacteria. The results of our analyses of Rickettsiaceae family genomes, which show surprisingly very low genomic diversity, and genome sequence-based analyses of an intrahospital bacterial outbreak and within-host genomic diversity are also summarized.

Commentary: Retinitis pigmentosa in Laurence-Moon-Bardet-Biedl syndrome: Genomic sequencing, gene therapy, and gene editing.

Being a rare inherited retinal dystrophy, retinitis pigmentosa (RP) in Laurence–Moon–Bardet–Biedl syndrome (LMBBS) is typically described in case series and reports. In the current study,[1] the authors describe a detailed big data analysis of patients with RP which helps document the degree and progeression of vision loss in affected patients. It also helps depict in detail, associated systemic and ocular co-morbidities. Genetic testing in such patients helps significantly. The advantages are threefold. First, we are able to share the likely course and progression of vision loss to patients by comparing them with people reported to have similar mutations. Second, the inheritance pattern can be informed and discussed with patients, which helps in family planning. Last but not the least, knowing the mutation helps us discuss potential ongoing gene therapy clinical trials and therapies in development, if available, for the same mutation. That said, in a busy retina practice, often explaining the advantages of the same and discussing the nuances around it may not always be possible. Further, the genomic sequencing technology is financially formidable for most patients, restricting its applicability at present. LMBBS is caused by mutations in the BBS gene (BBS1–BBS21), which account for 80% of cases with a clinical diagnosis of Bardet Biedl Syndrome (BBS).[2] The BBS1 gene, which is the most commonly affected, is responsible for cilia formation in photoreceptors. The impact of BBS gene mutations is seen in ciliated cells. Therefore, photoreceptor changes accompany hearing loss and renal, gonadal, and intellectual dysfunction. Advances in gene therapy have received US Food and Drug Administration (FDA) approval for retinal dystrophy caused by RPE65 gene mutations (voretigene neparvovec), and clinical trials are in progress for various other mutations causing RP. However, targeting the BBS gene mutations via gene therapy has been found to be complex due to the structural stoichiometry of the BBSome protein.[3] Gene editing using Clustered Regularly Interspaced Short Palindromic Repeats (CRISPR) received the Nobel Prize in 2020. This promising new technique allows for editing the mutation. The CRISPR effector molecules consist of a guide RNA and Cas9 protein. The guide RNA identifies the target DNA to be edited, and the Cas9 protein cleaves the DNA, following which DNA repair mechanisms take place, which can insert the desired DNA bases, thereby correcting the mutation.[4] The technique can, however, cause DNA editing at other areas of the genome, called off-target effects. To mitigate this, CRISPR base editing and prime editing have been developed.[5] The technology holds promise and is currently in clinical trials for mutations in the CEP290 gene causing RP, the Brilliance Trial.[6] The role of CRISPR is yet to be explored in BBS gene mutations and perhaps could form a prudent area to explore in the future. To conclude, LMBBS is an important syndrome affecting multiple organs and tissues, the retina being one of them. Such descriptive studies driven by big data analytics help elucidate clinical characteristics of rare inherited retinal dystrophies. In future, an associated relevant genetic analysis of the causative mutations will help describe the mutational landscape in our country and plan therapies for the same.

Diagnostic strategies in patients with undiagnosed and rare diseases

Abstract Rare diseases are life-threatening or chronically debilitating conditions affecting millions of people worldwide. In many instances, the patients experience a delay in their diagnosis or remain undiagnosed despite extensive investigations carried out by specialists. There are several explanations to account for this phenomenon including the socioeconomic context and the lack of an established consensus for diagnostic testing. Nonetheless, the widespread use of genetic and genomic tests in the past decades has had a major impact on clinical reasoning paradigms, and new troves of data are constantly being generated and analyzed. This requires constantly updating tools to match the discovery rate and allow reanalysis. In this review, we summarize the latest international recommendations and guidelines to address the problem of diagnostic deficit as well as present the current diagnostic workflows. Increasing access to exome and genome sequencing technologies and biological validation, gaining insight into the interpretation of multi-omics datasets, and fostering data sharing would reduce the long diagnostic odyssey and diagnostic gap.

Accurate Measurement of DNA Methylation: Challenges and Bias Correction.

DNA methylation is a key epigenetic modification involved in gene regulation whose contribution to disease susceptibility is still not fully understood. As the cost of genome sequencing technologies continues to drop, it will soon become commonplace to perform genome-wide quantification of DNA methylation at a single base-pair resolution. However, the demand for its accurate quantification might vary across studies. When the scope of the analysis is to detect regions of the genome with different methylation patterns between two or more conditions, e.g., case vs control; treatments vs placebo, accuracy is not crucial. This is the case in epigenome-wide association studies used as genome-wide screening of methylation changes to detect new candidate genes and regions associated with a specific disease or condition. If the aim of the analysis is to use DNA methylation measurements as a biomarker for diseases diagnosis and treatment (Laird, Nat Rev Cancer 3:253-266, 2003; Bock, Epigenomics 1:99-110, 2009), it is instead recommended to produce accurate methylation measurements. Furthermore, if the objective is the detection of DNA methylation in subclonal tumor cell populations or in circulating tumor DNA or in any case of mosaicism, the importance of accuracy becomes critical. The aim of this chapter is to describe the factors that could affect the precise measurement of methylation levels and a recent Bayesian statistical method called MethylCal and its extension that have been proposed to minimize this problem.

Welcome to Phytopharmacological Communications!

Welcome to the inaugural issue of Phytopharmacological Communications -a biannual, open access, and peer-reviewed journal aiming to publish high-quality research articles in the field of basic & clinical pharmacology of the compounds/extracts obtained from natural sources, especially from plants. The journal emphasizes cellular and molecular investigation of phytocompounds/extracts but will also accept studies investigating pharmacological activities at the tissue and organ level. Sound and relevant in vivo studies are welcomed. Phytopharmacological Communications invites studies investigating the use of plants and their biological and pharmacological effects based on the principles of skeptical inquiry and the scientific method. Key areas of interest are pharmacology, toxicology, and the clinical applications of herbs and natural products in medicine, including studies of herb-drug interactions and other aspects of the safety of herbal medicines. Papers concerned with the effects of common food ingredients and standardized plant extracts, including commercial products, are particularly welcome, as are mechanistic studies on isolated natural phytocompounds. Phytopharmacological Communications is especially interested in ethnopharmacological studies. Ethnopharmacology focuses on the use of traditional medicine in local communities, including its commercial applications. We welcome field studies, pharmacological and clinical studies of chemically profiled extracts, and studies on the quality and composition of naturally derived products. In the last two decades, rapid advances in technology have enabled researchers to investigate arcane biological phenomena and ask deeper questions at the cellular, molecular and atomic levels. Several cellular processes involved in health and disease are being unraveled at a rapid pace, high resolution, and with unprecedented details. Authors carrying out investigations leveraging these technologies such as next genome sequencing, CRISPR-Cas9, digital medicine, 3-D printing, bioinformatics, and stem cell technologies, are encouraged to submit their findings to Phytopharmacological Communications. The purpose of this journal is to provide a platform to the scientific fraternity, especially to the regional and national academics, where they could get their studies published after a rapid, transparent, and high-quality peer review. All the articles published in Phytopharmacological Communications will be freely available to readers immediately after their publication. The open-access policy of our journal is likely to increase the readership of articles and will enhance their visibility and citation potential. Therefore, I invite you to submit your work to Phytopharmacological Communications.

Forensic nanopore sequencing of microhaplotype markers using QitanTech’s QNome

In recent years, extraordinary progress has been made in genome sequencing technologies, which has led to a decrease in cost and an increase in the diversity of sequenced genomes. Nanopore sequencing is one of the latest genome sequencing technologies. It aims to sequence longer contiguous pieces of DNA, which are essential for resolving structurally complex regions, and provides a new approach for forensic genetics to detect longer markers in real time. To date, multiple studies have been conducted to sequence forensic markers using MinION from Oxford Nanopore Technologies (ONT), and the results indicate that nanopore sequencing holds promise for forensic applications. Qitan Technology (QitanTech) recently launched its first commercial nanopore genome sequencer, QNome. It could achieve a read length of more than 150 kbp, and could generate approximately 500 Mb of data in 8 h. In this pilot study, we explored and validated this alternative nanopore sequencing device for microhaplotype (MH) profiling using a custom set of 15 MH loci. Seventy single-contributor samples were divided into 7 batches, each of which included 10 samples and control DNA 9947A and was sequenced by QNome. MH genotypes generated from QNome were compared to those from Ion Torrent sequencing (Ion S5XL system) to evaluate the accuracy and stability. Twelve samples randomly selected from the last three batches and Control DNA 9947A were also subjected to ONT MinION sequencing (with R9.4 flow cell) for parallel comparison. Based on MHtyper, a bioinformatics workflow developed for automated MH designation, all MH loci can be genotyped and reliably phased using the QNome data, with an overall accuracy of 99.83% (4 errors among 2310 genotypes). Three occurred near or in the region of homopolymer sequences, and one existed within 50 bp of the start of the sequencing reaction. In the last 15 samples (12 individual samples and 3 replicates of control DNA 9947A), two SNPs located at 4-mer homopolymers failed to obtain reliable genotypes on the MinION data. This study shows the potential of state-of-the-art nanopore sequencing methods to analyze forensic MH markers. Given the rapid pace of change, sporadic and nonrepetitive errors presented in this study are expected to be resolved by further developments of nanopore technologies and analysis tools.

Welcome to Molecular Medicine Communications!

Welcome to the inaugural issue of Molecular Medicine Communications-a biannual, open access, and peer-reviewed journal aiming to publish high quality research articles in the field of basic & clinical molecular medicine. The molecular medicine perspective emphasizes cellular and molecular phenomena and interventions rather than the previous conceptual and observational focus on patients and their organs. Molecular Medicine Communications will publish studies investigating the cellular and molecular aspects of medicine, especially related to pharmacology, pathology, genetics, neurosciences, infectious diseases, and molecular medicine in general. Animal studies investigating molecular mechanisms of disease diagnosis, pathogenesis, and treatment, as well as investigational new compounds using in vitro, in vivo, and in silico tools for mechanistic insights are also welcomed. One aspect of molecular medicine which this journal will have primary focus on, is precision medicine. Advances in precision medicine have already led to powerful new discoveries and several new treatments that are tailored to specific characteristics, such as a person’s genetic makeup, or the genetic profile of an individual’s tumor. This is helping transform the way we can treat diseases such as cancer: Patients with breast, lung, and colorectal cancers, as well as melanomas and leukemias, for instance, routinely undergo molecular testing as part of patient care, enabling physicians to select treatments that improve chances of survival and reduce exposure to adverse effects. In the last two decades, rapid advances in technology have enabled researchers to investigate arcane biological phenomena and ask deeper questions at cellular, molecular and atomic levels. Several cellular processes involved in health and disease are being unraveled at a rapid pace, high resolution, and with unprecedented details. Authors carrying out investigations leveraging these technologies such as next genome sequencing, CRISPR-Cas9, digital medicine, 3-D printing, bioinformatics, and stem cell technologies, are encouraged to submit their finding to Molecular Medicine Communications. The purpose of this journal is to provide a platform to the scientific fraternity, especially to the regional and national academics, where they could get their studies published after a rapid, transparent and high-quality peer-review. All the articles published in Molecular Medicine Communications will be freely available to readers immediately after their publication. Open access policy of our journal is likely to increase the readership of articles and will enhance their visibility and citation potential. Therefore, I invite you to submit your work to Molecular Medicine Communications.