Kbp In Length Research Articles

Uncovering epigenetic and transcriptional regulation of growth in Douglas-fir: identification of differential methylation regions in mega-sized introns.

Tree growth performance can be partly explained by genetics, while a large proportion of growth variation is thought to be controlled by environmental factors. However, to what extent DNA methylation, a stable epigenetic modification, contributes to phenotypic plasticity in the growth performance of long-lived trees remains unclear. In this study, a comparative analysis of targeted DNA genotyping, DNA methylation and mRNAseq profiling for needles of 44-year-old Douglas-fir trees (Pseudotsuga menziesii (Mirb.) Franco) having contrasting growth characteristics was performed. In total, we identified 195 differentially expressed genes (DEGs) and 115 differentially methylated loci (DML) that are associated with genes involved in fitness-related processes such as growth, stress management, plant development and energy resources. Interestingly, all four intronic DML were identified in mega-sized (between 100 and 180 kbp in length) and highly expressed genes, suggesting specialized regulation mechanisms of these long intron genes in gymnosperms. DNA repetitive sequences mainly comprising long-terminal repeats of retroelements are involved in growth-associated DNA methylation regulation (both hyper- and hypomethylation) of 99 DML (86.1% of total DML). Furthermore, nearly 14% of the DML was not tagged by single nucleotide polymorphisms, suggesting a unique contribution of the epigenetic variation in tree growth.

PULMONARY REHABILITATION IN POST COVID SEQUELAE IN INDIA

An outbreak of pneumonia was reported in Wuhan, Hubei Province, China in December 2019 and quickly spread to all Chinese provinces. 1, 2 The coronavirus disease (COVID-19) pandemic spread through 190 countries within 20 weeks from Wuhan, China, affecting 334,000 populations. This caused more than 14,500 deaths by mid-March 2020. The number of infected people has risen to 1,210,956 in the month of April 6, 2020, with 67,594 associated expirations. 4 India recorded its first COVID-19 infection case on January 30, 2020 in a student from China's capital, Wuhan. In 2020, India reported 360 positive COVID-19 cases from 23 states across the country. 4 in India, the number of asymptomatic cases was higher. On April 4, 2019, a novel coronavirus pathogen was proved to be a novel betacoronavirus. 2 Sub-micron sized viruses, narrated as "organisms at the edge of life", are liable for some of the worst human pandemics in history, like influenza (1918), smallpox (1978), and COVID-19, as of September 17, 2020. 2 The SARS-CoV-2 virus is causative for COVID-19. Nearly 29 million people have been affected by this virus, which caused 936,521 deaths worldwide (WHO, 2020). 2 Corona viruses are single-stranded positive-strand RNA viruses that are known to contain some of the largest viral genomes, up to around 32 kbp in length. Following an augmentation in the number of coronavirus genome sequences available and following efforts to investigate the diversity in the wild, the family Corona viridae now contains four genera. The structure of the coronavirus as given in figure 1 Those species that belong to the genera Alpha corona virus and Beta corona virus can infect mammalian hosts, while those of Gamma corona virus and the recently defined Delta corona virus mainly infect avian species. 3 The highly pathogenic human coronaviruses, Severe Acute Respiratory Syndrome coronavirus (SARS-CoV) and Middle East respiratory syndrome coronavirus (MERS-CoV), belong to lineage B (sub-genus Sarbecovirus) and lineage C (sub-genus Merbecovirus) of Betacoronavirus. 3

Prioritizing Endangered Species in Genome Sequencing: Conservation Genomics in Action with the First Platinum-Standard Reference-Quality Genome of the Critically Endangered European Mink Mustela lutreola L., 1761.

The European mink Mustela lutreola (Mustelidae) ranks among the most endangered mammalian species globally, experiencing a rapid and severe decline in population size, density, and distribution. Given the critical need for effective conservation strategies, understanding its genomic characteristics becomes paramount. To address this challenge, the platinum-quality, chromosome-level reference genome assembly for the European mink was successfully generated under the project of the European Mink Centre consortium. Leveraging PacBio HiFi long reads, we obtained a 2586.3 Mbp genome comprising 25 scaffolds, with an N50 length of 154.1 Mbp. Through Hi-C data, we clustered and ordered the majority of the assembly (>99.9%) into 20 chromosomal pseudomolecules, including heterosomes, ranging from 6.8 to 290.1 Mbp. The newly sequenced genome displays a GC base content of 41.9%. Additionally, we successfully assembled the complete mitochondrial genome, spanning 16.6 kbp in length. The assembly achieved a BUSCO (Benchmarking Universal Single-Copy Orthologs) completeness score of 98.2%. This high-quality reference genome serves as a valuable genomic resource for future population genomics studies concerning the European mink and related taxa. Furthermore, the newly assembled genome holds significant potential in addressing key conservation challenges faced by M. lutreola. Its applications encompass potential revision of management units, assessment of captive breeding impacts, resolution of phylogeographic questions, and facilitation of monitoring and evaluating the efficiency and effectiveness of dedicated conservation strategies for the European mink. This species serves as an example that highlights the paramount importance of prioritizing endangered species in genome sequencing projects due to the race against time, which necessitates the comprehensive exploration and characterization of their genomic resources before their populations face extinction.

Diversity, Relationship, and Distribution of Virophages and Large Algal Viruses in Global Ocean Viromes.

Virophages are a group of small double-stranded DNA viruses that replicate and proliferate with the help of the viral factory of large host viruses. They are widely distributed in aquatic environments but are more abundant in freshwater ecosystems. Here, we mined the Global Ocean Viromes 2.0 (GOV 2.0) dataset for the diversity, distribution, and association of virophages and their potential host large viruses in marine environments. We identified 94 virophage sequences (>5 kbp in length), of which eight were complete genomes. The MCP phylogenetic tree showed that the GOV virophages were widely distributed on the global virophage tree but relatively clustered on three major branches. The gene-sharing network divided GOV virophages into 21 outliers, 2 overlaps, and 14 viral clusters, of which 4 consisted of only the GOV virophages. We also identified 45 large virus sequences, 8 of which were >100 kbp in length and possibly involved in cell-virus-virophage (C-V-v) trisome relationships. The potential eukaryotic hosts of these eight large viruses and the eight virophages with their complete genomes identified are likely to be algae, based on comparative genomic analysis. Both homologous gene and codon usage analyses support a possible interaction between a virophage (GOVv18) and a large algal virus (GOVLV1). These results indicate that diverse and novel virophages and large viruses are widespread in global marine environments, suggesting their important roles and the presence of complicated unknown C-V-v relationships in marine ecosystems.

Infection with a novel polymycovirus enhances growth, conidiation and sensitivity to UV-B irradiation of the entomopathogenic fungus Metarhizium anisopliae.

Metarhizium anisopliae is a well-studied entomopathogenic fungus that is widely used in biological control programs. The presence of polymycoviruses in this fungus is common, but their effects on fungal development and stress tolerance are not well understood. In this study, we report the discovery of a novel double-stranded RNA virus, named Metarhizium anisopliae polymycovirus 1 (MaPmV1), which comprises four dsRNAs ranging from 2.4 to 1.4 kbp in length. Phylogenetic analysis revealed that MaPmV1 belongs to the Polymycoviridae family. Biological comparison between MaPmV1-infected (Vi) and -free (Vf) isogenic lines showed that MaPmV1 remarkably enhances the growth rate and conidiation of the host fungus. The upregulation of growth- and conidiation-related genes in Vi strains supports this finding. In addition, MaPmV1 increases the sensitivity of the host to UV-B irradiation, which is evidenced by the downregulation of DNA damage repair genes in Vi strains. However, MaPmV1 does not appear to have any significant impact on the virulence of M. anisopliae. Furthermore, overexpression of individual viral proteins in M. anisopliae did not result in any significant phenotypic alterations, indicating that MaPmV1-mediated changes are not related to a single viral protein. Overall, our findings suggest that mycoviruses can be exploited to enhance fungal development in entomopathogenic fungi, which may lead to improved conidium production on a large scale.

Ultralow-Input Genome Library Preparation for Nanopore Sequencing with Droplet MDA.

Genome sequencing of small species, such as those of meinofauna, can be challenging due to the extremely low input of genomic DNA. While nanopore sequencing is a promising technology for genome assembly due to its limitless long reads, recommended input of 1μg for the Ligation Sequencing Kit often precludes the use of this technology. Here, I detail an unbiased droplet-based multiple displacement amplification of picogram order of DNA to realize nanopore sequencing with ultralow input of genomic DNA. For this purpose, a microfluidic chip of 10X Genomics Chromium Controller is utilized. With this method, over 10μg of unbiased amplicons around 10 kbp in length can be obtainedfrom as low as 50 μg of input DNA, which is enough for the construction of multiple sequencing libraries, or for the size selection of longer DNA fragments.

Ten Ostreobium (Ulvophyceae) strains from Great Barrier Reef corals as a resource for algal endolith biology and genomics

ABSTRACT Ostreobium is a genus of siphonous green algae that lives as an endolith in carbonate substrates under extremely limited light conditions and has recently been gaining attention due to its roles in reef carbonate budgets and its association with reef corals. Knowledge about this genus remains fairly limited due to the scarcity of strains available for physiological studies. Here, we report on 10 strains of Ostreobium isolated from coral skeletons from the Great Barrier Reef. Phenotypic diversity showed differences in gross morphology and in a few structures. Phylogenetic analyses of the tufA and rbcL put the strains in the context of the lineages identified previously through environmental sequencing. The chloroplast genomes of our strains are all around 80 kbp in length and show that genome structure is highly conserved, with only a few insertions (some containing putative protein-coding genes) differing between the strains. The addition of these strains from the Great Barrier Reef to our toolkit will help develop Ostreobium as a model species for endolithic growth, low-light photosynthesis and coral-algal associations.

Efficient golden gate assembly of DNA constructs for single molecule force spectroscopy and imaging.

Single-molecule techniques such as optical tweezers and fluorescence imaging are powerful tools for probing the biophysics of DNA and DNA-protein interactions. The application of these methods requires efficient approaches for creating designed DNA structures with labels for binding to a surface or microscopic beads. In this paper, we develop a simple and fast technique for making a diverse range of such DNA constructs by combining PCR amplicons and synthetic oligonucleotides using golden gate assembly rules. We demonstrate high yield fabrication of torsionally-constrained duplex DNA up to 10 kbp in length and a variety of DNA hairpin structures. We also show how tethering to a cross-linked antibody substrate significantly enhances measurement lifetime under high force. This rapid and adaptable fabrication method streamlines the assembly of DNA constructs for single molecule biophysics.

Assembled and annotated 26.5 Gbp coast redwood genome: a resource for estimating evolutionary adaptive potential and investigating hexaploid origin

Sequencing, assembly, and annotation of the 26.5 Gbp hexaploid genome of coast redwood (Sequoia sempervirens) was completed leading toward discovery of genes related to climate adaptation and investigation of the origin of the hexaploid genome. Deep-coverage short-read Illumina sequencing data from haploid tissue from a single seed were combined with long-read Oxford Nanopore Technologies sequencing data from diploid needle tissue to create an initial assembly, which was then scaffolded using proximity ligation data to produce a highly contiguous final assembly, SESE 2.1, with a scaffold N50 size of 44.9 Mbp. The assembly included several scaffolds that span entire chromosome arms, confirmed by the presence of telomere and centromere sequences on the ends of the scaffolds. The structural annotation produced 118,906 genes with 113 containing introns that exceed 500 Kbp in length and one reaching 2 Mb. Nearly 19 Gbp of the genome represented repetitive content with the vast majority characterized as long terminal repeats, with a 2.9:1 ratio of Copia to Gypsy elements that may aid in gene expression control. Comparison of coast redwood to other conifers revealed species-specific expansions for a plethora of abiotic and biotic stress response genes, including those involved in fungal disease resistance, detoxification, and physical injury/structural remodeling and others supporting flavonoid biosynthesis. Analysis of multiple genes that exist in triplicate in coast redwood but only once in its diploid relative, giant sequoia, supports a previous hypothesis that the hexaploidy is the result of autopolyploidy rather than any hybridizations with separate but closely related conifer species.

Выделение и характеристика бактериофагов Pseudomonas aeruginosa — потенциальных агентов для фаговой терапии

Pseudomonas aeruginosa — is one of the pathogens characterized by the critical number of multidrug-resistant (MDR) strains. Phage therapy is considered an alternative to antibiotics, especially in treatment of infections caused by MDR strains. The aim of this study was to isolate and characterize P. aeruginosa phages that could potentially be suitable for treating infectious diseases. To isolate the P. aeruginosa phages, enrichment cultures were used. The lytic activity spectrum was confirmed by spot testing on 40 P. aeruginosa strains. Whole-genome sequencing was performed using Illumina MiSeq instrument. Phylogenetic analysis was done using VICTOR tool. Isolated phages vB_PaeA-55-1w and vB_PaeM-198 from Autographiviridae and Myoviridae families, respectively, had a broad spectrum of lytic activity (about 50% each), including lysis of MDR strains. The genomes vB_PaeA-55-1w and vB_PaeM-198 comprise double-stranded DNA of 42.5 and 66.3 kbp in length, respectively. Open reading frames were annotated for both phages (52 for vB_PaeA-55-1w, and 95 for vB_PaeM-198), no integrases and toxins were detected. On a phylogenetic tree, vB_PaeA-55-1w phage was clustered with phages from the Phikmvvirus genus (Autographiviridae family), which are also used in phage therapy. vB_PaeM-198 phage was clustered with phages from the Pbunavirus genus (Myoviridae family). vB_PaeA-55-1w and vB_PaeM-198 phages could be considered as candidates for phage therapy and may be used to treat infections caused by MDR P. aeruginosa.

Sequencing Ultrarare Targets with Compound Nucleic Acid Cytometry.

Targeted sequencing enables sensitive and cost-effective analysis by focusing resources on molecules of interest. Existing methods, however, are limited in enrichment power and target capture length. Here, we present a novel method that uses compound nucleic acid cytometry to achieve million-fold enrichments of molecules >10 kbp in length using minimal prior target information. We demonstrate the approach by sequencing HIV proviruses in infected individuals. Our method is useful for rare target sequencing in research and clinical applications, including for identifying cancer-associated mutations or sequencing viruses infecting cells.

Genomic Characterisation of a Novel Avipoxvirus Isolated from an Endangered Northern Royal Albatross (Diomedea sanfordi).

Marine bird populations have been declining globally with the factors driving this decline not fully understood. Viral diseases, including those caused by poxviruses, are a concern for endangered seabird species. In this study we have characterised a novel avipoxvirus, tentatively designated albatrosspox virus (ALPV), isolated from a skin lesion of an endangered New Zealand northern royal albatross (Diomedea sanfordi). The ALPV genome was 351.9 kbp in length and contained 336 predicted genes, seven of which were determined to be unique. The highest number of genes (313) in the ALPV genome were homologs of those in shearwaterpox virus 2 (SWPV2), while a further 10 were homologs to canarypox virus (CNPV) and an additional six to shearwaterpox virus 1 (SWPV1). Phylogenetic analyses positioned the ALPV genome within a distinct subclade comprising recently isolated avipoxvirus genome sequences from shearwater, penguin and passerine bird species. This is the first reported genome sequence of ALPV from a northern royal albatross and will help to track the evolution of avipoxvirus infections in this endangered species.

Detection and identification of Xanthomonas campestris pv. campestris and pv. raphani by multiplex polymerase chain reaction using specific primers.

Black rot and bacterial spots threaten the cultivation of cruciferous vegetables worldwide, and the development of a method that can easily detect, identify, and distinguish their respective pathogens Xanthomonas campestris pv. campestris (Xcc) and X. campestris pv. raphani (Xcr) is required. Multiple whole-genome sequences of Xcc and Xcr were aligned to identify specific regions and subsequently design gene markers. A region present in Xcr, but absent in Xcc, was detected, which was approximately 11.5 kbp in length, sandwiched between the serine protease homolog (SPH) and nicotinate phosphoribosyltransferase gene (pncB). It contained putative cellulose synthesis-related genes, whereas Xcc only had a modified cellulose synthase gene. Designed primers were pncB_fw1 and pncB_fw2 (from the pncB gene), Xcc_rv1 and Xcc_rv2 (from the modified cellulose synthesis gene), and Xcr_rv1 and Xcr_rv2 (from the putative first and second open reading frames of the gene cluster). PCR using pncB_fw1 and Xcc_rv1, or pncB_fw2 and Xcc_rv2, amplified DNA fragments only in Xcc and X. campestris pv. incanae (Xci). Xci is the causal agent of black rot of garden stock and closely related to Xcc. PCR using pncB_fw1 and Xcr_rv1, or pncB_2 and Xcr_rv2, amplified DNA fragments only in Xcr. Multiplex PCR analysis easily distinguished Xcc and Xcr from bacterial colonies isolated on growth media and detected the pathogen in symptomatic leaves. Multiplex nested PCR detected the contamination of one seed with Xcc and/or Xcr infection from 1000 seeds. Therefore, the PCR primers designed in this study therefore helped detect and discriminate between Xcc and Xcr. KEY POINTS: • Xanthomonas campestris pv. campestris (Xcc) and pv. raphani (Xcr) were investigated. • Novel primers were designed following whole-genome comparison analyses. • Multiplex PCR with new primers distinguished Xcc and Xcr simultaneously.

Genomic Characterisation of a Novel Avipoxvirus Isolated from an Endangered Yellow-Eyed Penguin (Megadyptes antipodes).

Emerging viral diseases have become a significant concern due to their potential consequences for animal and environmental health. Over the past few decades, it has become clear that viruses emerging in wildlife may pose a major threat to vulnerable or endangered species. Diphtheritic stomatitis, likely to be caused by an avipoxvirus, has been recognised as a significant cause of mortality for the endangered yellow-eyed penguin (Megadyptes antipodes) in New Zealand. However, the avipoxvirus that infects yellow-eyed penguins has remained uncharacterised. Here, we report the complete genome of a novel avipoxvirus, penguinpox virus 2 (PEPV2), which was derived from a virus isolate obtained from a skin lesion of a yellow-eyed penguin. The PEPV2 genome is 349.8 kbp in length and contains 327 predicted genes; five of these genes were found to be unique, while a further two genes were absent compared to shearwaterpox virus 2 (SWPV2). In comparison with penguinpox virus (PEPV) isolated from an African penguin, there was a lack of conservation within the central region of the genome. Subsequent phylogenetic analyses of the PEPV2 genome positioned it within a distinct subclade comprising the recently isolated avipoxvirus genome sequences from shearwater, canary, and magpie bird species, and demonstrated a high degree of sequence similarity with SWPV2 (96.27%). This is the first reported genome sequence of PEPV2 from a yellow-eyed penguin and will help to track the evolution of avipoxvirus infections in this rare and endangered species.

Molecular characterisation of a novel pathogenic avipoxvirus from an Australian passerine bird, mudlark (Grallina cyanoleuca)

Avipoxviruses have been recognised as significant pathogens in the conservation of numerous bird species. However, the vast majority of the avipoxviruses that infect wild birds remain uncharacterised. Here, we characterise a novel avipoxvirus, mudlarkpox virus (MLPV) isolated from an Australian passerine bird, mudlark (Grallina cyanoleuca). In this study, tissues with histopathologically confirmed lesions consistent with avian pox were used for transmission electron microscopy, and showed characteristic ovoid to brick-shaped virions, indicative of infectious particles. The MLPV genome was >342.7 Kbp in length and contained six predicted novel genes and a further six genes were missing compared to shearwaterpox virus-2 (SWPV-2). Subsequent phylogenetic analyses of the MLPV genome positioned the virus within a distinct subclade also containing recently characterised avipoxvirus genomes from shearwater, canary and magpie bird species, and demonstrated a high degree of sequence similarity with SWPV-2 (94.92%).

Multipartite Genome of Lyme Disease Borrelia: Structure, Variation and Prophages.

All members of the Borrelia genus that have been examined harbour a linear chromosome that is about 900 kbp in length, as well as a plethora of both linear and circular plasmids in the 5-220 kbp size range. Genome sequences for 27 Lyme disease Borrelia isolates have been determined since the elucidation of the B. burgdorferi B31 genome sequence in 1997. The chromosomes, which carry the vast majority of the housekeeping genes, appear to be very constant in gene content and organization across all Lyme disease Borrelia species. The content of the plasmids, which carry most of the genes that encode the differentially expressed surface proteins that interact with the spirochete's arthropod and vertebrate hosts, is much more variable. Lyme disease Borrelia isolates carry between 7-21 different plasmids, ranging in size from 5-84 kbp. All strains analyzed to date harbor three plasmids, cp26, lp54 and lp17. The plasmids are unusual, as compared to most bacterial plasmids, in that they contain many paralogous sequences, a large number of pseudogenes, and, in some cases, essential genes. In addition, a number of the plasmids have features indicating that they are prophages. Numerous methods have been developed for Lyme disease Borrelia strain typing. These have proven valuable for clinical and epidemiological studies, as well as phylogenomic and population genetic analyses. Increasingly, these approaches have been displaced by whole genome sequencing techniques. Some correlations between genome content and pathogenicity have been deduced, and comparative whole genome analyses promise future progress in this arena.

Implication of the Identification of an Earlier Pseudorabies Virus (PRV) Strain HLJ-2013 to the Evolution of Chinese PRVs.

Pseudorabies viruses (PRVs) pose a great threat to the pig industry of many countries around the world. Human infections with PRV have also been reported occasionally in China. Therefore, understanding the epidemiology and evolution of PRVs is of great importance for disease control in the pig populations and humans as well. In this study, we isolated a PRV designated HLJ-2013 from PRV-positive samples that had been collected in Heilongjiang, China, in 2013. The full genome sequence of the virus was determined to be ∼143 kbp in length using high-throughput sequencing. The genomic sequence identities between this isolate and 21 other previous PRV isolates ranged from 92.4% (with Bartha) to 97.3% (with SC). Phylogenetic analysis based on the full-length genome sequences revealed that PRV HLJ-2013 clustered together with all the Chinese strains in one group belonging to Genotype II, but this virus occurred phylogenetically earlier than all the other Chinese PRV strains. Phylogenetic trees based on both protein-coding genes and non-coding regions revealed that HLJ-2013 probably obtained its genome sequences from three origins: a yet unknown parent virus, the European viruses, and the same ancestor of all Chinese PRVs. Recombination analysis showed that HLJ-2013-like virus possibly donated the main framework of the genome of the Chinese PRVs. HLJ-2013 exhibited cytopathic and growth characteristics similar to that of the Chinese PRV strains SC and HeN1, but its pathogenicity in mice was higher than that of SC and lower than that of HeN1. The identification of HLJ-2013 takes us one step closer to understanding the origin of PRVs in China and provides new knowledge about the evolution of PRVs worldwide.

First Detection of African Swine Fever (ASF) Virus Genotype X And Serogroup 7 in Symptomatic Pigs in The Democratic Republic of Congo.

The biggest threat to global animal-source food security is infectious disease. African swine fever (ASF) is a contagious, notifiable and highly infectious fatal haemorrhagic viral disease of domestic pigs with significant economic effects due to massive losses in pig population in affected regions . It is caused by African swine fever virus (ASFV), a large, linear double-stranded DNA virus. It is the sole member of the genus Asfivirus within the Asfarviridae family, with a genome of 170–193 kbp in length. Warthogs, bush pigs and the soft tick of the genus Ornithodoros are the major reservoirs [3, 4, 5]. ASFV infection is almost always fatal in domestic pigs and the lack of effective vaccines and treatments is a big challenge for its prevention and control. The disease is endemic in more than 25 sub-Saharan African countries. Frequent epidemics of ASF in Russian Federation (2007–2020) and large parts of Eastern Europe (2014–2020) [6, 7], as well as disease spread in China in 2018—the producer of approximately half of the world’s one billion pigs—highlight the significant threat of this disease to the global pig industry, which is worth more than USD150 billion a year

Abstract 4897: Genome-wide structural variation analysis and characterization of Hepatitis B Virus integration sites in hepatocellular carcinomas using Bionano Genomics whole genome imaging

Abstract Large genomic rearrangements are known contributors to cancer formation. Hepatitis B virus (HBV) integration is a frequent driver of hepatocellular carcinoma, frequently associated with genomic rearrangements. Next generation sequencing (NGS) is commonly used to study these integration sites and rearrangements; however, due to short read lengths, NGS is often unable to characterize large and complicated genomic rearrangements. To solve this problem, whole genome imaging was used to perform genome-wide detection of large structural variants (SVs) in DNA extracted from liver tumors, including characterization of HBV viral integration sites and nearby rearrangements. Ultra-high molecular weight DNA was extracted from liver tissue of four patients diagnosed with hepatocellular carcinoma. The DNA was fluorescently labeled at the motif CTTAAG, linearized, and imaged in nanochannel arrays using a Bionano Genomics Saphyr platform. Images of molecules were converted into digital single-molecule reads. 400X coverage of DNA molecules at least 150 kbp in length was collected for each sample. For three of the patients, somatic structural variants (SV) were identified by comparing SV calls and single molecule DNA reads of liver tumor resections against those of matching physiologically normal liver tissue. For the fourth patient, putative somatic SVs were identified by comparing SV calls against a database of 59,490 known variants from 57 physiologically normal individuals. Among the matched-pair samples, 511 large tumor-unique structural variants were identified. For the fourth sample, 619 putative somatic events were identified. HBV viral integration sites, which had previously been identified via NGS, and nearby SVs were characterized. Complex SVs were resolved, including translocation events with several loci. These findings demonstrate the utility of whole genome imaging for studying the relationship between viral integration and cancer. Citation Format: Karl Hong, Camille Péneau, Quentin Bayard, Sandrine Imbeaud, Andy Pang, Alex Hastie, Eric Letouzé, Jessica Zucman-Rossi. Genome-wide structural variation analysis and characterization of Hepatitis B Virus integration sites in hepatocellular carcinomas using Bionano Genomics whole genome imaging [abstract]. In: Proceedings of the Annual Meeting of the American Association for Cancer Research 2020; 2020 Apr 27-28 and Jun 22-24. Philadelphia (PA): AACR; Cancer Res 2020;80(16 Suppl):Abstract nr 4897.

ANALISIS IN-SILICO PROTEIN TIOL-DISULFIDA ISOMERASE FAMILI Bacillus

ABSTRACT Kumaunang et al., 2010. Characterization of transcript genome product from Chaperone Bacillus sp. RP1. Protein folding is facilitated by chaperone molecule an folding catalyst.The aim of this research was to characterize the gene product of thiol-disulfide oxidoreductase gene from thermophylic organism Bacillus sp. Method used in this research were isolation and purification of deducted gene and characterization of gene product. The result showed that isolated gene has 1.4 kbp in length. Characterization of gene product indicated three proteins, Bdbdred, Bdbdox, and Etda, that have thioredoxin and DsbA motifs, and also active site and bonding site with Zn. Structure prediction of these three proteins showed similarity among them. Keywords : chaperone, thiol-disulfide oxidoreductase, thioredoxin, DsbA, Bdbd