Common Variants Research Articles

Patent Foramen Ovale in Pregnancy: A Call for Action.

Patent foramen ovale (PFO) is a common anatomical variant that can promote paradoxical embolic events. As pregnancy and the postpartum period are responsible for a hypercoagulable state, the risk for paradoxical embolism might be increased in the presence of a PFO. An updated systematic review was performed to evaluate the available data regarding the risk of adverse pregnancy outcomes in women with reported PFO-related complications during pregnancy or postpartum. A comprehensive literature search was performed using MEDLINE, Scopus, and Web of Science electronic databases from their inception to April 2024. A total of 28 pregnant women diagnosed with PFO were included (mean age, 29.43 ± 5.48 years). The majority of the paradoxical embolic events occurred during pregnancy (60%) while 3 (11%) occurred during delivery and 8 (29%) postpartum. A significant proportion of paradoxical embolism comprised ischemic events (89%) including ischemic stroke (57%), transient ischemic attack (14%), acute myocardial infarction (7%), and branch retinal artery occlusion (11%). Three women (11%) suffered cardiopulmonary arrest due to an amniotic fluid embolism. Moreover, thrombus in transit appeared in 4 women (14%). Twelve women (42%) underwent transcatheter PFO closure procedure during the pregnancy, 4 (14%) in the postpartum, and 7 (25%) received only medical treatment. Limited data exist regarding optimal management of PFO in pregnant women. Further research is needed to develop refined guidelines and improve outcomes for this unique patient population, ensuring both maternal and fetal safety.

Phenotypic expression of rare progressive cardiac conduction disease variants in the general population.

Familial progressive cardiac conduction disease (PCCD) is a heritable condition leading to conduction defects that may require pacemaker implantation. The penetrance of rare PCCD variants in general populations and relationship with electrocardiogram (ECG) trait polygenic risk scores (PRS) is unknown. We investigated the prevalence and phenotypic expression of rare variants linked with PCCD in a population cohort and to establish whether ECG-trait PRSs improve risk prediction. Carriers of known rare pathogenic/likely pathogenic (P/LP) PCCD variants, and variants of uncertain significance (VUS) were identified in 469,511 UK Biobank participants. Primary (any conduction disease) and secondary (high-grade AV block and pacemaker implantation) outcomes were evaluated in lifetime-risk Cox proportional hazard models including rare variant status, sex, and age. Additional models including PR and QRS PRSs were tested. There were 25 P/LP carriers (5 genes) and 3,174 VUS carriers (4 genes). Conduction disease was more prevalent in P/LP individuals compared to non-carriers (28% vs 5.3%, p<0.001) with a hazard ratio (HR) of 6.60 (95% CI=3.14-13.8) over 6.5 million person-years of follow-up and C-index 0.602 (0.599-0.605). This was driven by AV block (HR 23.2 [8.7-61.8]) and pacemaker implantation (HR 13.4 [6.01-29.8]). All individuals were aged >50 at diagnosis. Combined with P/LP status, PR-PRS and QRS-PRS improved model performance (C-index 0.618 [0.615-0.622]). In a population-based cohort, PCCD P/LP variant carriers were at greater risk of conduction disease. Including PRSs for the PR and QRS improved risk prediction, supporting the combination of rare and common variants in risk assessment.

The gut-liver axis plays a limited role in mediating the liver’s heat susceptibility of Chinese giant salamander

The Chinese giant salamander (CGS, Andrias davidianus), a flagship amphibian species, is highly vulnerable to high temperatures, posing a significant threat under future climate change. Previous research linked this susceptibility to liver energy deficiency, accompanied by shifts in gut microbiota and reduced food conversion rates, raising questions about the role of the gut-liver axis in mediating heat sensitivity. This study investigated the responses of Chinese giant salamander larvae to a temperature gradient (10–30 °C), assessing physiological changes alongside histological, gut metagenomic, and tissue transcriptomic analyses. Temperatures above 20 °C led to mortality, which resulted in delayed growth. Histological and transcriptomic data revealed metabolic exhaustion and liver fibrosis in heat-stressed salamanders, underscoring the liver’s critical role in heat sensitivity. While heat stress altered the gut microbiota’s community structure, their functional profiles, especially in nutrient absorption and transformation, remained stable. Both gut and liver showed temperature-dependent transcriptional changes, sharing some common variations in actins, heat shock proteins, and genes related to transcription and translation. However, their energy metabolism exhibited opposite trends: it was downregulated in the liver but upregulated in the gut, with the gut showing increased activity in the pentose phosphate pathway and oxidative phosphorylation, potentially countering metabolic exhaustion. Our findings reveal that the liver of the larvae exhibits greater thermal sensitivity than the gut, and the gut-liver axis plays a limited role in mediating thermal intolerance. This study enhances mechanistic understanding of CGS heat susceptibility, providing a foundation for targeted conservation strategies in the face of climate change.

Development of cleaved amplified polymorphic sequence marker for powdery mildew resistance in Korean malting barley using QTL-seq

IntroductionPowdery mildew (PM) caused by Blumeria graminis f.sp. hordei is a major fungal disease affecting barley (Hordeum vulgare L.). The most effective approach to controlling this disease is the development of resistant cultivars. In this study, we investigated the genomic regions associated with PM resistance by performing quantitative loci sequencing (QTL-seq) twice using the parental lines ‘Hopum’ (susceptible) and ‘Jeonju 182’ (resistant) as reference genomes.MethodsThis study was conducted from 2022 to 2024 at the National Institute of Agricultural Sciences in Wanju, Republic of Korea. We conducted artificial crossing, genomic DNA extraction, phenotypic evaluation, QTL-seq analysis, and cleaved amplified polymorphic sequence (CAPS) marker development. Candidate gene expression was analyzed using real-time quantitative reverse transcription PCR.ResultsA total of 2,130 common variants were identified in two regions of chromosome 1H (6,940,595–18,008,713 bp and 19,363,700–20,551,018 bp). Twenty-one non-synonymous single nucleotide polymorphisms among these variants were used to develop CAPS markers, which were validated in an F2 population and malting barley cultivars. The PMC_75 marker, which is annotated as HORVU.MOREX.r3.1HG0005790, showed a strong association with resistance and was highly expressed in ‘Jeonju 182.’ This marker is associated with a Clathrin Assembly Protein, which is involved in vesicle formation and intracellular trafficking, processes essential for cellular signaling and defense responses.ConclusionThe development of the CAPS marker (PMC_75) provides a valuable tool for marker-assisted selection in breeding PM-resistant malting barley, improving breeding efficiency, and accelerating the development of resistant cultivars.

Psychological and behavioural considerations for integrating polygenic risk scores for disease into clinical practice.

A polygenic risk score (PRS) summarizes in one number an individual's estimated genetic association with a specific trait or disease based on the common DNA variants included in the score. Disease PRSs have the potential to positively affect population health by improving disease risk prediction, thereby also potentially improving disease prevention, early intervention and treatment. However, given the potential psychological, behavioural and other harms, there are also concerns about integrating PRSs into clinical tools and healthcare systems. Here we assess five arguments against implementing PRSs for physical disease in clinical practice that revolve around psychological and behavioural considerations. For each argument, we consider a counterargument, the evidence and underlying theory, any gaps in the evidence base and possible future directions and research priorities. We conclude that, although there may be other barriers to implementation, there is currently little evidence of psychological or behavioural harms from integrating PRSs into practice.

Exploring the Phenotypic Heterogeneity and Bioenergetic Profile of the m.13513G&gt;A mtDNA Substitution: A Heteroplasmy Perspective

The m.13513G&gt;A (p.Asp393Asn) substitution in the MT-ND5 (Mitochondrially Encoded NADH/Ubiquinone Oxidoreductase Core Subunit 5) gene is a common pathogenic variant associated with primary mitochondrial disorders. It frequently causes Leigh syndrome and mitochondrial encephalomyopathy with lactate acidosis and stroke-like episodes (MELAS). In this study, we present clinical data, heteroplasmy levels in various tissues (blood, urine, and skin fibroblasts), and bioenergetic characteristics from a cohort of 20 unrelated patients carrying the m.13513G&gt;A mutation, classified according to the following phenotypes: Leigh syndrome (n = 12), MELAS (n = 2), and Leber’s hereditary optic neuropathy (LHON, n = 6). We observed a significant correlation between high respiratory ratios and heteroplasmy levels in fibroblast cell lines of the patients. Furthermore, fibroblast cell lines with heteroplasmy levels exceeding 55% exhibited markedly reduced mitochondrial membrane potential. These findings contribute to a better understanding of the clinical and bioenergetic profiles of patients with m.13513G&gt;A-variant-related phenotypes across different heteroplasmy levels, based on data from a single genetic center. Our data suggest that even a slight shift in heteroplasmy can improve cellular function and, consequently, the patients’ phenotype, providing a solid foundation for the development of future gene therapies for mtDNA diseases.

Contributions of common and rare genetic variation to different measures of mood and anxiety disorder in the UK Biobank.

Mood and anxiety disorders co-occur and share symptoms, treatments and genetic risk, but it is unclear whether combining them into a single phenotype would better capture genetic variation. The contribution of common genetic variation to these disorders has been investigated using a range of measures; however, the differences in their ability to capture variation remain unclear, while the impact of rare variation is mostly unexplored. We aimed to explore the contributions of common genetic variation and copy number variations associated with risk of psychiatric morbidity (P-CNVs) to different measures of internalising disorders. We investigated eight definitions of mood and anxiety disorder, and a combined internalising disorder, derived from self-report questionnaires, diagnostic assessments and electronic healthcare records (EHRs). Association of these definitions with polygenic risk scores (PRSs) of major depressive disorder and anxiety disorder, as well as presence of a P-CNV, was assessed. The effect sizes of both PRSs and P-CNVs were similar for mood and anxiety disorder. Compared to mood and anxiety disorder, internalising disorder resulted in higher prediction accuracy for PRSs, and increased significance of associations with P-CNVs for most definitions. Comparison across the eight definitions showed that PRSs had higher prediction accuracy and effect sizes for stricter definitions, whereas P-CNVs were more strongly associated with EHR- and self-report-based definitions. Future studies may benefit from using a combined internalising disorder phenotype, and may need to consider that different phenotype definitions may be more informative depending on whether common or rare variation is studied.

Drug repurposing candidates for amyotrophic lateral sclerosis using common and rare genetic variants

Abstract Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative condition for which novel disease modifying therapies are urgently needed. Given the increasing bottlenecks in drug discovery pipelines, repurposing existing drugs for ALS may represent a path to expedite translation and improve disease outcomes. However, ALS is a heterogeneous disease for which the aetiology remains poorly characterised, complicating efforts to effectively repurpose drugs. We propose that the polygenic architecture of ALS genetic liability, which ranges from ultra-rare, high-impact variation to common frequency loci of small-individual effect, could be leveraged to prioritise drug repurposing candidates which are more generalisable to the ALS clinical population. Here, we utilise common and rare frequency ALS genetic risk with a novel approach to uncover therapeutic classes that may be prospective repurposing opportunities in ALS. The common variant-led analyses integrated both positional-based and functional gene-based tests on SNP-genotype data from a genome-wide association study of ALS and implicated mitogen activated protein kinase signalling related downregulation through B-Raf inhibitors as a prospective target for repurposing. The rare variant-led approaches leveraged rare variant burden testing of exonic variation on whole genome-sequencing data from a subset of the common variant genome-wide association study cohort and prioritised B-vitamin related candidates, such as cobalamin and niacin. Clinical characterisation of these putative repurposing opportunities revealed genetic support to existing biology for which related compounds are actively proceeding through ALS clinical studies. Moreover, leveraging transcriptomic data from ALS derived cell lines carrying a selection of pathogenic variants in genes that cause familial forms of ALS (C9orf72, SOD1, FUS, and TARDBP) suggested that the action of B-Raf inhibitors may be of particular relevance to C9orf72 carriers, whilst the signal for B-vitamin signalling related targets was strongest in SOD1 carriers. In summary, we demonstrate the importance of considering the therapeutic actionability of both common and rare-variant mediated risk for ALS given the immense biological heterogeneity of this disorder. Future preclinical and clinical studies are now warranted to further characterise the tractability of these prioritised compounds.

Sex-specific genetic effects on susceptibility to idiopathic pulmonary fibrosis

BackgroundIdiopathic pulmonary fibrosis (IPF) is a chronic lung condition that is more prevalent in males than females. The reasons for this are not fully understood, with differing environmental exposures due to historically sex-biased occupations, or diagnostic bias, being possible explanations. To date, over 20 independent genetic association signals have been reported for IPF susceptibility, but these have been discovered when combining males and females.ObjectivesTo assess whether there is a need to consider sex-specific effects when evaluating genetic risk in clinical prediction models for IPF and to test for sex-specific associations with IPF susceptibility.MethodsWe performed a genome-wide single nucleotide polymorphism (SNP)-by-sex interaction study meta-analysis of IPF risk in six independent case-control studies. comprising 4561 cases (1280 females, 2281 males) and 23 500 controls (8360 females, 14 528 males) of European genetic ancestry. We used polygenic risk scores (PRS) comprising common (minor allele frequency&gt;1%) autosomal variants to assess differences in genetic risk prediction between males and females.ResultsThe predictive accuracy of the PRSs were similar between males and females, regardless of whether using combined or sex-specific association results. Three new independent genetic association signals were identified (p&lt;10−6).ConclusionsThe predictive accuracy of common autosomal SNP-based PRSs did not vary significantly between males and females. We prioritised three genetic variants whose effect on IPF risk may be modified by sex. These findings would not account for the differences in prevalence between males and females. Future studies should ensure adequate representation of both sexes.

Distribution and laterality of concha bullosa in patients with different cranial skeletal types: a retrospective analysis among cases with concha bullosa.

Concha bullosa, a common anatomical variation characterized by air-filled cavities in the turbinate bones, can influence sinonasal function and surgical planning. This study aims to evaluate the distribution, laterality, and cranial skeletal type associations of concha bullosa (CB) among patients with confirmed CB findings on computed tomography (CT) scans. A retrospective cohort study was conducted on 774 patients who underwent cranial and facial CT scans between March 2023 and March 2024. Patients were classified into mesocephalic, brachycephalic, and dolichocephalic groups based on the cephalic index. The distribution and laterality of concha bullosa were assessed using CT scans, and statistical analyses were performed using the Chi-square test, with a significance level set at P < 0.05. Among CB-positive patients, left-sided concha bullosa was most common (49.48%), followed by right-sided (31.91%) and bilateral (18.6%) involvement. Mesocephalic individuals constituted the largest proportion of CB-positive cases (55.56%), followed by dolichocephalic (22.86%) and brachycephalic (21.57%) individuals. A significant gender difference was observed in the mesocephalic (P = 0.001) and brachycephalic (P = 0.013) groups, with males exhibiting a higher prevalence of right-sided and bilateral concha bullosa. Concha bullosa distribution varies significantly among cranial skeletal types among CB-positive patients, with mesocephalic individuals exhibiting the highest overall prevalence. Our findings underscore the influence of cranial morphology on the presentation of CB. This insight may enhance radiological evaluation and individualized surgical planning in CB-positive patients.

Analysis of Rare Coding Variants in 470,000 UK Biobank Participants Reveals Genetic Associations With Childhood Asthma Predisposition.

Previous studies of genetic contributions to risk of childhood asthma have implicated common variants with small effect sizes. Some studies using exome sequence data have reported associations with rare coding variants having larger effects on risk, notably an analysis of 145,000 subjects which found association with loss of function (LOF) variants in FLG, the gene coding for filaggrin. Here, we report the results of an analysis of rare nonsynonymous and LOF variants, carried out on the full UK Biobank cohort of 470,000 exome-sequenced participants. The phenotype of childhood asthma was defined as reporting asthma with onset before 18. Regression analysis was applied to gene-wise tests for association of LOF and nonsynonymous variants. Forty-five tests using different pathogenicity predictors were applied to the first cohort of 200,000 participants. Subsequently, the 100 genes showing strongest evidence for association were analysed in the second cohort of 270,000 participants, using only the best-performing predictor for each gene. For FLG, separate analyses were carried out for participants with atopic dermatitis. Three genes achieved statistical significance after correction for testing these 100 genes: FLG, IL33 and PRKCQ. The effects on asthma risk and frequencies of variants in different functional categories were characterised for these genes. Damaging coding variants were associated with increased risk of asthma in FLG and IL33 but reduced risk in PRKCQ. FLG LOF variants were also associated with the risk of atopic dermatitis, and their effect on asthma risk was higher in people who reported a diagnosis of atopic dermatitis. Rare coding variants in a small number of genes have important effects on asthma risk. Further study of individual variant effects might elucidate mechanisms of pathogenesis. This research has been conducted using the UK Biobank Resource.

Clinical and molecular characteristics of simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: insight from a tertiary pediatric center in Vietnam.

Simple virilizing congenital adrenal hyperplasia (SV-CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disease caused by pathogenic variants of the CYP21A2 gene. Children with SV-CAH often experience delayed diagnosis, presenting with pseudo-precocious puberty in males and genital virilization in females. Genotyping is essential for diagnosis, treatment, optimization and phenotype prediction. This study describes the clinical and genetic characteristics of SV-CAH to guide treatment strategies. From November 2016 to March 2023, 79 children (accounting for 34.3% of 230 CAH cases in the overall children's cohort) from 75 families were classified as SV-CAH due to 21-OHD at the Vietnam National Children's Hospital. Forty-three children underwent CYP21A2 mutation analysis using multiplex ligation-dependent probe amplification technique and complete gene sequencing to detect pathogenic variants. Median age at diagnosis was 4.5 years (IQR: 1 day – 22.3 years). There were 38.0% males and 62.0% females. Common symptom was penile enlargement in males (53.3%) and clitoromegaly (87.8%) in females; their height standard deviation (SD) at diagnosis was 1.90 ± 1.79 SD (-2.02 to +5.43) according to WHO; and bone age advancement was 4.65 ± 2.59 years. Genetic analysis identified 21 pathogenic variants and 22 genotypes in 43 children. The most common variant was p.I173N (47.7%); the most common genotype was p.I173N/p.I173N (16.3%). Children with SV-CAH are often diagnosed late. Genetic analysis should be prioritized early, especially for children diagnosed through newborn screening programs. Determining the genotype is crucial for optimizing treatment strategies, ensuring personalized management, and avoiding overtreatment.

The common genetic variant rs1278960 determining expression of Interferon-lambda predicts inflammatory response in critically ill COVID-19 patients

The single nucleotide polymorphism rs12979860 is associated with the production of IFNλ4, a type III interferon, which offers protection from viral infection via its proinflammatory properties. We investigated if a genetically determined increase in IFNλ4 affects disease progression in SARS-CoV-2. This prospective, single-center study involved critically ill SARS-CoV-2 patients admitted to the intensive care unit. We performed genotyping for rs12979860 and analyzed daily laboratory data. Genotype frequencies were compared with an external validation cohort. Critically ill individuals with COVID-19 (n = 184; 29.3% women) were included. Median age was 63 years. The TT genotype was present in 11%, CT in 48% and CC in 41%. At baseline, CRP, ferritin, transferrin and neopterin did not differ significantly between groups. Longitudinal analysis revealed significant genotype-dependent differences in CRP, ferritin and neopterin with the highest peak in TT patients after 10–15 days. A higher need for renal replacement therapy (31.6% vs. 11.7%, p = 0.044) and mechanical ventilation (22 days vs. 15 days, p = 0.018) was observed in the TT group. The SNP rs12979860 near IFNL4 is associated with distinct inflammatory trajectories in critically ill COVID-19 patients. Genetic determinants of the immune response influence the severity of inflammation and clinical outcomes in severe COVID-19.

Retraction: "Diagnostic Classification and Prognostic Prediction Using Common Genetic Variants in Autism Spectrum Disorder: Genotype-Based Deep Learning".

Retraction: "Diagnostic Classification and Prognostic Prediction Using Common Genetic Variants in Autism Spectrum Disorder: Genotype-Based Deep Learning".

Code Error in "Diagnostic Classification and Prognostic Prediction Using Common Genetic Variants in Autism Spectrum Disorder: Genotype-Based Deep Learning".

Code Error in "Diagnostic Classification and Prognostic Prediction Using Common Genetic Variants in Autism Spectrum Disorder: Genotype-Based Deep Learning".

Simple sequence repeats and their expansions: role in plant development, environmental response and adaptation.

Repetitive DNA is a feature of all organisms, ranging from archaea and plants to humans. DNA repeats can be seen both in coding and in noncoding regions of the genome. Due to the recurring nature of the sequences, simple DNA repeats tend to be more prone to errors during replication and repair, resulting in variability in their unit length. This feature of simple sequence repeats led to their use as molecular markers for mapping traits in diverse organisms. Advances in genomics, and the ever-reducing costs of genome sequencing have empowered us to assess the functional impacts of DNA repeats. The variability in repeat lengths can cause phenotypic differences depending on where they are present in the genome. Variability in the repeat length in coding regions of genes results in poly amino acid stretches that appear to interfere with protein function, including the perturbation of protein-protein interactions with diverse phenotypic impacts. These are often common allelic variations that can significantly impact evolutionary dynamics. In extreme situations, repeats can undergo massive expansions and appear as outliers. Repeat expansions underlie several genetic defects in plants to diseases in humans. This review systematically analyses tandem DNA repeats in plants, their role in development and environmental response and adaptation in plants. We identify and synthesise emerging themes, differentiate repeat length variability and repeat expansions, and argue that many repeat-associated phenotypes in plants are yet to be discovered. We emphasise the underexplored nature and immense potential of this area of research, particularly in plants, and suggest ways in which this can be achieved and how it might contribute to evolution and agricultural productivity.

Rare Adenoid Variant of Basal Cell Carcinoma in an African American Child With Nevoid Basal Cell Carcinoma Syndrome: Atypical Nodulocystic Presentation.

Nevoid basal cell carcinoma syndrome (NBCCS) (also known as Gorlin-Goltz syndrome, GGS) is a rare autosomal dominant condition with the classic triad of basal cell carcinoma (BCC), keratocystic odontogenic tumor/s, and skeletal malformations. We describe a 15-year-old African American girl who presented with keratocystic odontogenic tumor/s, calcification of the tentorium, and a new development of an atypical nodulocystic lesion on the chest wall. Both fine needle aspiration and subsequent resection showed a rare adenoid cystic variant of BCC. She had a mutation in PTCH1 c.2887+1G > A with a possibly mosaic variant. Development of BCCs is typically in early adulthood in this syndrome and more frequent in individuals of European ancestry. Acrochordon-like lesions are the most common clinical presentation and nodular, follicular, or infundibulocystic are common histologic variants. This case is a rare presentation of BCC in an African American girl with a clinically nodulocystic lesion and unusual adenoid histologic features. This case also emphasizes the significance of a multidisciplinary approach in treating these complex patients.

Comprehensive analysis of SLC17A5 variants in large European cohorts reveals no association with Parkinson's disease risk.

Comprehensive analysis of SLC17A5 variants in large European cohorts reveals no association with Parkinson's disease risk.

Genetic determinants of longitudinal behavioural trajectories in rare conditions: The case of fragile X syndrome.

Despite being a monogenic condition, individual variability in the phenotypic profile of fragile X syndrome (FXS) is substantial, with behavioural outcomes differing in severity and frequency. Existing studies have revealed that common variation in 5-HTTLPR (serotonin) and COMT (dopamine) single nucleotide polymorphisms (SNPs) is associated with behavioural variation in FXS when measured cross-sectionally. However, the associations between SNPs and longitudinal behavioural trajectories in FXS remain unknown. This study explored relationships between three SNPs, selected a priori (5-HTTLPR, COMT and monoamine oxidase A (MAOA)), and trajectories of clinically relevant behaviours in 42 males with FXS. Autistic characteristics, property destruction, aggression, stereotyped behaviour, self-injury, repetitive behaviour, and mood/interest and pleasure were measured at two time points across three years via a series of standardised informant questionnaires. DNA was extracted from saliva samples and a combination of PCR and TaqMan genotyping was performed for genetic confirmation of FXS, and COMT, 5-HTTLPR and MAOA analyses. Results revealed that males with FXS with AA COMT genotype were less likely to display persistent stereotyped behaviour compared to AG or GG genotypes. Participants with the S/S 5-HTTLPR genotype displayed a steeper decline in repetitive and stereotyped behaviours compared to the L/S or L/L genotypes. Participants with the three-repeat MAOA genotype demonstrated a steeper decline in communication skills over three years compared to those with four repeats. This study documents the association between common genetic variation and behavioural trajectories in males with FXS. Results suggest specific SNPs play an important role in longitudinal behavioural patterns in FXS. This work may facilitate an understanding of individual trajectories for people with FXS, and, therefore, support future tailored interventions.

Functional genomics in age-related macular degeneration: From genetic associations to understanding disease mechanisms.

Functional genomics in age-related macular degeneration: From genetic associations to understanding disease mechanisms.