Bryan R. Gorman
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View article: Formal Statistical Replication Analysis in Lung Cancer Genome-Wide Association Studies
Formal Statistical Replication Analysis in Lung Cancer Genome-Wide Association Studies Open
Dozens of genome-wide association studies (GWAS) have identified thousands of single nucleotide polymor-phisms (SNPs) associated with lung cancer risk. However, it remains challenging to translate these findings to clinical insights. One w…
View article: A genome-wide association study identifies an African-specific locus on chromosome 21q22.12 associated with Burkitt lymphoma risk and survival
A genome-wide association study identifies an African-specific locus on chromosome 21q22.12 associated with Burkitt lymphoma risk and survival Open
Burkitt lymphoma (BL) is a B-cell malignancy that disproportionately affects children in sub-Saharan Africa. We performed a genome-wide association study (GWAS) in a combined set of 800 childhood cases and 3865 controls in East Africa, con…
View article: Rare genetic variation in PTPRB is associated with central serous chorioretinopathy, varicose veins and glaucoma
Rare genetic variation in PTPRB is associated with central serous chorioretinopathy, varicose veins and glaucoma Open
Central serous chorioretinopathy is an eye disease characterized by fluid buildup under the central retina whose etiology is not well understood. Abnormal choroidal veins in central serous chorioretinopathy patients have been shown to have…
View article: Genome-wide association study of dry eye disease reveals shared heritability with systemic comorbidities
Genome-wide association study of dry eye disease reveals shared heritability with systemic comorbidities Open
Dry eye disease (DED) affects up to 25% of the adult population, with chronic symptoms of pain and dryness often negatively impacting quality of life. The genetic architecture of DED is largely unknown. Here, we develop and validate an alg…
View article: Prevalence and disease risks for male and female sex chromosome trisomies: a registry-based phenome-wide association study in 1.5 million participants of MVP, FinnGen, and UK Biobank
Prevalence and disease risks for male and female sex chromosome trisomies: a registry-based phenome-wide association study in 1.5 million participants of MVP, FinnGen, and UK Biobank Open
Sex chromosome trisomies (SCT) are the most common whole chromosome aneuploidy in humans. Yet, our understanding of the prevalence and associated health outcomes is largely driven by observational studies of clinically diagnosed cases, res…
View article: Author Correction: Genetic drivers and cellular selection of female mosaic X chromosome loss
Author Correction: Genetic drivers and cellular selection of female mosaic X chromosome loss Open
View article: Multi-ancestry GWAS meta-analyses of lung cancer reveal susceptibility loci and elucidate smoking-independent genetic risk
Multi-ancestry GWAS meta-analyses of lung cancer reveal susceptibility loci and elucidate smoking-independent genetic risk Open
Lung cancer remains the leading cause of cancer mortality, despite declining smoking rates. Previous lung cancer GWAS have identified numerous loci, but separating the genetic risks of lung cancer and smoking behavioral susceptibility rema…
View article: Biological Insights from Schizophrenia-associated Loci in Ancestral Populations
Biological Insights from Schizophrenia-associated Loci in Ancestral Populations Open
Large-scale genome-wide association studies of schizophrenia have uncovered hundreds of associated loci but with extremely limited representation of African diaspora populations. We surveyed electronic health records of 200,000 individuals…
View article: Transcriptome- and proteome-wide association studies identify genes associated with renal cell carcinoma
Transcriptome- and proteome-wide association studies identify genes associated with renal cell carcinoma Open
View article: Rare genetic variation in VE-PTP is associated with central serous chorioretinopathy, venous dysfunction and glaucoma
Rare genetic variation in VE-PTP is associated with central serous chorioretinopathy, venous dysfunction and glaucoma Open
Central serous chorioretinopathy (CSC) is a fluid maculopathy whose etiology is not well understood. Abnormal choroidal veins in CSC patients have been shown to have similarities with varicose veins. To identify potential mechanisms, we an…
View article: Multi-ancestry meta-analyses of lung cancer in the Million Veteran Program reveal novel risk loci and elucidate smoking-independent genetic risk
Multi-ancestry meta-analyses of lung cancer in the Million Veteran Program reveal novel risk loci and elucidate smoking-independent genetic risk Open
Lung cancer remains the leading cause of cancer mortality, despite declines in smoking rates. Previous lung cancer genome-wide association studies (GWAS) have identified numerous loci, but separating the genetic risks of lung cancer and sm…
View article: Multi-ancestry genome-wide association meta-analysis of mosaic loss of chromosome Y in the Million Veteran Program identifies 240 novel loci
Multi-ancestry genome-wide association meta-analysis of mosaic loss of chromosome Y in the Million Veteran Program identifies 240 novel loci Open
Mosaic loss of chromosome Y (mLOY) is the most commonly detected mosaic chromosomal alteration, and is associated with a range of health outcomes in males. We detected mLOY in 106,054 European (EUR), 13,927 admixed African (AFR), and 6,127…
View article: A multi-ancestry GWAS of Fuchs corneal dystrophy highlights the contributions of laminins, collagen, and endothelial cell regulation
A multi-ancestry GWAS of Fuchs corneal dystrophy highlights the contributions of laminins, collagen, and endothelial cell regulation Open
View article: Prevalence, Morbidity, and Mortality of Men With Sex Chromosome Aneuploidy in the Million Veteran Program Cohort
Prevalence, Morbidity, and Mortality of Men With Sex Chromosome Aneuploidy in the Million Veteran Program Cohort Open
Importance The reported phenotypes of men with 47,XXY and 47,XYY syndromes include tall stature, multisystem comorbidities, and poor health-related quality of life (HRQOL). However, knowledge about these sex chromosome aneuploidy (SCA) con…
View article: P303: Population prevalence of sex chromosome trisomy varies by genetic ancestry
P303: Population prevalence of sex chromosome trisomy varies by genetic ancestry Open
Based on population screening studies, the prevalence of an additional X (47,XXY and 47,XXX) or Y (47,XYY) chromosome is estimated to occur in 1 out of every 500 individuals. These sex chromosome trisomy (SCT) conditions arise from non-dis…
View article: BCFtools/liftover: an accurate and comprehensive tool to convert genetic variants across genome assemblies
BCFtools/liftover: an accurate and comprehensive tool to convert genetic variants across genome assemblies Open
Motivation Many genetics studies report results tied to genomic coordinates of a legacy genome assembly. However, as assemblies are updated and improved, researchers are faced with either realigning raw sequence data using the updated coor…
View article: Admixture mapping of peripheral artery disease in a Dominican population reveals a putative risk locus on 2q35
Admixture mapping of peripheral artery disease in a Dominican population reveals a putative risk locus on 2q35 Open
Peripheral artery disease (PAD) is a form of atherosclerotic cardiovascular disease, affecting ∼8 million Americans, and is known to have racial and ethnic disparities. PAD has been reported to have a significantly higher prevalence in Afr…
View article: Prevalence, Morbidity, and Mortality of 1,609 Men with Sex Chromosome Aneuploidy: Results from the Diverse Million Veteran Program Cohort
Prevalence, Morbidity, and Mortality of 1,609 Men with Sex Chromosome Aneuploidy: Results from the Diverse Million Veteran Program Cohort Open
STRUCTURED ABSTRACT Importance The reported phenotypes of men with 47,XXY and 47,XYY syndromes include tall stature, multisystem comorbidities, and poor health-related quality of life (HRQoL). However, knowledge about these sex chromosome …
View article: Autoimmune alleles at the major histocompatibility locus modify melanoma susceptibility
Autoimmune alleles at the major histocompatibility locus modify melanoma susceptibility Open
Autoimmunity and cancer represent two different aspects of immune dysfunction. Autoimmunity is characterized by breakdowns in immune self-tolerance, while impaired immune surveillance can allow for tumorigenesis. The class I major histocom…
View article: GENOME‐WIDE ASSOCIATION STUDY OF CHILDHOOD BURKITT LYMPHOMA IN EAST AFRICA IDENTIFIES A NOVEL GERMLINE SUSCEPTIBILITY LOCUS ON CHROMOSOME 21
GENOME‐WIDE ASSOCIATION STUDY OF CHILDHOOD BURKITT LYMPHOMA IN EAST AFRICA IDENTIFIES A NOVEL GERMLINE SUSCEPTIBILITY LOCUS ON CHROMOSOME 21 Open
Introduction: Burkitt lymphoma (BL) is an aggressive B-cell lymphoma with hallmark somatic IG::MYC chromosomal translocations. BL is responsible for a significant proportion of childhood cancers in equatorial Africa, where exposure to Epst…
View article: Association Between Fuchs Endothelial Corneal Dystrophy, Diabetes Mellitus, and Multimorbidity
Association Between Fuchs Endothelial Corneal Dystrophy, Diabetes Mellitus, and Multimorbidity Open
Purpose: The aim of this study was to assess risk for demographic variables and other health conditions that are associated with Fuchs endothelial corneal dystrophy (FECD). Methods: We developed a FECD case–control algorithm based on struc…
View article: Multi-ancestry GWAS of Fuchs corneal dystrophy highlights roles of laminins, collagen, and endothelial cell regulation
Multi-ancestry GWAS of Fuchs corneal dystrophy highlights roles of laminins, collagen, and endothelial cell regulation Open
Fuchs endothelial corneal dystrophy (FECD) is a leading indication for corneal transplantation, but its molecular pathophysiology remains poorly understood. We performed genome-wide association studies (GWAS) of FECD in the Million Veteran…
View article: Admixture Mapping of Peripheral Artery Disease in a Dominican Population Reveals a Novel Risk Locus on 2q35
Admixture Mapping of Peripheral Artery Disease in a Dominican Population Reveals a Novel Risk Locus on 2q35 Open
Peripheral artery disease (PAD) is a form of atherosclerotic cardiovascular disease, affecting ∼8 million Americans, and is known to have racial and ethnic disparities. PAD has been reported to have significantly higher prevalence in Afric…
View article: Correlates of suicidal behaviors and genetic risk among United States veterans with schizophrenia or bipolar I disorder
Correlates of suicidal behaviors and genetic risk among United States veterans with schizophrenia or bipolar I disorder Open
Objective Persons diagnosed with schizophrenia (SCZ) or bipolar I disorder (BPI) are at high risk for self-injurious behavior, suicidal ideation, and suicidal behaviors (SB). Characterizing associations between diagnosed mental and physica…
View article: Pharmacogenetic allele variant frequencies: An analysis of the VA’s Million Veteran Program (MVP) as a representation of the diversity in US population
Pharmacogenetic allele variant frequencies: An analysis of the VA’s Million Veteran Program (MVP) as a representation of the diversity in US population Open
We present allele frequencies of pharmacogenomics relevant variants across multiple ancestry in a sample representative of the US population. We analyzed 658,582 individuals with genotype data and extracted pharmacogenomics relevant single…
View article: Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection
Population analyses of mosaic X chromosome loss identify genetic drivers and widespread signatures of cellular selection Open
Mosaic loss of the X chromosome (mLOX) is the most commonly occurring clonal somatic alteration detected in the leukocytes of women, yet little is known about its genetic determinants or phenotypic consequences. To address this, we estimat…
View article: Association between Fuchs Endothelial Corneal Dystrophy, Diabetes Mellitus and Multimorbidity
Association between Fuchs Endothelial Corneal Dystrophy, Diabetes Mellitus and Multimorbidity Open
Purpose To assess risk for demographic variables and other health conditions that are associated with Fuchs endothelial corneal dystrophy (FECD). Methods We developed a FECD case-control algorithm based on structured EHR data and accuracy …
View article: Penetrance and Pleiotropy of Polygenic Risk Scores for Schizophrenia, Bipolar Disorder, and Depression Among Adults in the US Veterans Affairs Health Care System
Penetrance and Pleiotropy of Polygenic Risk Scores for Schizophrenia, Bipolar Disorder, and Depression Among Adults in the US Veterans Affairs Health Care System Open
Importance Serious mental illnesses, including schizophrenia, bipolar disorder, and depression, are heritable, highly multifactorial disorders and major causes of disability worldwide. Objective To benchmark the penetrance of current neuro…
View article: Pharmacogenetic allele variant frequencies: An analysis of the VA’s Million Veteran Program (MVP) as a representation of the diversity in US population
Pharmacogenetic allele variant frequencies: An analysis of the VA’s Million Veteran Program (MVP) as a representation of the diversity in US population Open
We present allele frequencies of pharmacogenomics relevant variants across multiple ancestry in a sample representative of the US population. We analyzed 658,582 individuals with genotype data and extracted pharmacogenomics relevant single…
View article: Distinctive cross-ancestry genetic architecture for age-related macular degeneration
Distinctive cross-ancestry genetic architecture for age-related macular degeneration Open
To effectively reduce vision loss due to age-related macular generation (AMD) on a global scale, knowledge of its genetic architecture in diverse populations is necessary. A critical element, AMD risk profiles in African and Hispanic/Latin…