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Item TypeName
Academic Article Mapping of a gene for type 2 diabetes associated with an insulin secretion defect by a genome scan in Finnish families.
Academic Article Genomewide linkage analysis of bipolar disorder by use of a high-density single-nucleotide-polymorphism (SNP) genotyping assay: a comparison with microsatellite marker assays and finding of significant linkage to chromosome 6q22.
Academic Article An integrated haplotype map of the human major histocompatibility complex.
Academic Article The vibrator mutation causes neurodegeneration via reduced expression of PITP alpha: positional complementation cloning and extragenic suppression.
Academic Article Whole-genome shotgun optical mapping of Deinococcus radiodurans.
Academic Article Short repeats and IS elements in the extremely radiation-resistant bacterium Deinococcus radiodurans and comparison to other bacterial species.
Academic Article A map of human genome sequence variation containing 1.42 million single nucleotide polymorphisms.
Academic Article The structure of haplotype blocks in the human genome.
Academic Article Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease.
Academic Article The mosaic structure of variation in the laboratory mouse genome.
Academic Article Segmental phylogenetic relationships of inbred mouse strains revealed by fine-scale analysis of sequence variation across 4.6 mb of mouse genome.
Academic Article A genome-wide scan for linkage to human exceptional longevity identifies a locus on chromosome 4.
Academic Article Subpopulation difference scanning: a strategy for exclusion mapping of susceptibility genes.
Academic Article Using a genome-wide scan and meta-analysis to identify a novel IBD locus and confirm previously identified IBD loci.
Academic Article Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1.
Academic Article Large-scale genome-wide association analysis of bipolar disorder identifies a new susceptibility locus near ODZ4.
Academic Article What have we learned from six years of GWAS in autoimmune diseases, and what is next?
Academic Article Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
Academic Article Genome sequence of the radioresistant bacterium Deinococcus radiodurans R1.
Academic Article Genome-wide association scan of attention deficit hyperactivity disorder.
Academic Article Identification of novel genes that mediate innate immunity using inbred mice.
Academic Article Genome sequence and comparative analysis of the solvent-producing bacterium Clostridium acetobutylicum.
Academic Article Genome scan of schizophrenia.
Academic Article Genome-wide detection and characterization of positive selection in human populations.
Academic Article A sequence-based variation map of 8.27 million SNPs in inbred mouse strains.
Academic Article Evaluating and improving power in whole-genome association studies using fixed marker sets.
Academic Article Genome-wide scan in Portuguese Island families implicates multiple loci in bipolar disorder: fine mapping adds support on chromosomes 6 and 11.
Academic Article Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis.
Academic Article Methods for high-density admixture mapping of disease genes.
Academic Article Genome-wide association studies in an isolated founder population from the Pacific Island of Kosrae.
Academic Article Human genome sequence variation and the influence of gene history, mutation and recombination.
Academic Article Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Academic Article Impaired autophagy of an intracellular pathogen induced by a Crohn's disease associated ATG16L1 variant.
Academic Article Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.
Academic Article Guilt beyond a reasonable doubt.
Academic Article Validating, augmenting and refining genome-wide association signals.
Academic Article Case-control genome-wide association study of attention-deficit/hyperactivity disorder.
Academic Article Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
Academic Article Risk alleles for multiple sclerosis identified by a genomewide study.
Academic Article New models of collaboration in genome-wide association studies: the Genetic Association Information Network.
Academic Article Two independent alleles at 6q23 associated with risk of rheumatoid arthritis.
Academic Article Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder.
Academic Article Founder population-specific HapMap panel increases power in GWA studies through improved imputation accuracy and CNV tagging.
Academic Article Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.
Academic Article Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
Academic Article The functional spectrum of low-frequency coding variation.
Academic Article Calibrating a coalescent simulation of human genome sequence variation.
Academic Article Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia.
Academic Article A susceptibility locus for asthma-related traits on chromosome 7 revealed by genome-wide scan in a founder population.
Academic Article Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs.
Academic Article Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.
Academic Article A mega-analysis of genome-wide association studies for major depressive disorder.
Academic Article Linkage thresholds for two-stage genome scans.
Academic Article Genetic analysis of multiple sclerosis.
Academic Article Partners in crime.
Academic Article Whole population, genome-wide mapping of hidden relatedness.
Academic Article Use of a genetic isolate to identify rare disease variants: C7 on 5p associated with MS.
Academic Article Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions.
Academic Article PLINK: a tool set for whole-genome association and population-based linkage analyses.
Academic Article Efficient control of population structure in model organism association mapping.
Academic Article Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs.
Academic Article Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I and II alleles.
Academic Article A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16.
Academic Article New approaches to gene hunting in IBD.
Academic Article Genome-wide association study of advanced age-related macular degeneration identifies a role of the hepatic lipase gene (LIPC).
Academic Article Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.
Academic Article Gene-centric association mapping of chromosome 3p implicates MST1 in IBD pathogenesis.
Academic Article A comprehensive genetic map of the mouse genome.
Academic Article Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.
Academic Article Genetic variants in the region harbouring IL2/IL21 associated with ulcerative colitis.
Academic Article Genomewide association studies: history, rationale, and prospects for psychiatric disorders.
Academic Article Corrigendum: Ulcerative colitis-risk loci on chromosomes 1p36 and 12q15 found by genome-wide association study.
Academic Article Fine mapping in 94 inbred mouse strains using a high-density haplotype resource.
Academic Article Integrating common and rare genetic variation in diverse human populations.
Academic Article Genome-wide association study identifies five new schizophrenia loci.
Academic Article Whole-genome association study of bipolar disorder.
Academic Article Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47.
Academic Article Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction.
Academic Article Extremely low-coverage sequencing and imputation increases power for genome-wide association studies.
Academic Article Genome-wide association study of electrocardiographic conduction measures in an isolated founder population: Kosrae.
Academic Article Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis.
Academic Article Candidate gene association study for diabetic retinopathy in persons with type 2 diabetes: the Candidate gene Association Resource (CARe).
Academic Article Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
Academic Article Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits.
Academic Article Accurately assessing the risk of schizophrenia conferred by rare copy-number variation affecting genes with brain function.
Academic Article Full-genome scan for linkage in 50 families segregating the bipolar affective disease phenotype.
Academic Article A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function.
Academic Article Large-scale discovery and genotyping of single-nucleotide polymorphisms in the mouse.
Academic Article Genomewide search for type 2 diabetes mellitus susceptibility loci in Finnish families: the Botnia study.
Academic Article Biases and reconciliation in estimates of linkage disequilibrium in the human genome.
Academic Article The value of gene-based selection of tag SNPs in genome-wide association studies.
Academic Article Genetic mapping in human disease.
Academic Article Genome-wide association analysis of metabolic traits in a birth cohort from a founder population.
Academic Article The genome-wide patterns of variation expose significant substructure in a founder population.
Academic Article Meta-analysis of genome scans and replication identify CD6, IRF8 and TNFRSF1A as new multiple sclerosis susceptibility loci.
Academic Article Common variants at five new loci associated with early-onset inflammatory bowel disease.
Academic Article Genome-wide association study in a high-risk isolate for multiple sclerosis reveals associated variants in STAT3 gene.
Academic Article Genome-wide scan in Portuguese Island families identifies 5q31-5q35 as a susceptibility locus for schizophrenia and psychosis.
Academic Article Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS).
Academic Article Genome-wide association scan of the time to onset of attention deficit hyperactivity disorder.
Academic Article HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin.
Academic Article Genetic profile for five common variants associated with age-related macular degeneration in densely affected families: a novel analytic approach.
Academic Article Lack of association between the Trp719Arg polymorphism in kinesin-like protein-6 and coronary artery disease in 19 case-control studies.
Academic Article Transferability of tag SNPs in genetic association studies in multiple populations.
Academic Article Common deletion polymorphisms in the human genome.
Academic Article A genome-wide scan for common variants affecting the rate of age-related cognitive decline.
Academic Article A genome-wide association search for type 2 diabetes genes in African Americans.
Academic Article Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals.
Academic Article Initial sequencing and comparative analysis of the mouse genome.
Academic Article Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.
Academic Article Genome sequence, comparative analysis and haplotype structure of the domestic dog.
Academic Article A molecular-properties-based approach to understanding PDZ domain proteins and PDZ ligands.
Academic Article A survey of allelic imbalance in F1 mice.
Academic Article Lower-than-expected linkage disequilibrium between tightly linked markers in humans suggests a role for gene conversion.
Academic Article Meta-analysis of genome-wide association studies.
Academic Article Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Academic Article A molecular marker based linkage map of Vitis.
Academic Article Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population.
Academic Article Variation in genome-wide mutation rates within and between human families.
Academic Article Genomewide search and association studies in a Finnish celiac disease population: Identification of a novel locus and replication of the HLA and CTLA4 loci.
Academic Article A meta-analysis of genome-wide association scans identifies IL18RAP, PTPN2, TAGAP, and PUS10 as shared risk loci for Crohn's disease and celiac disease.
Academic Article Replicating genotype-phenotype associations.
Academic Article Genome-wide association scan of quantitative traits for attention deficit hyperactivity disorder identifies novel associations and confirms candidate gene associations.
Academic Article Heritability and genome-wide association study to assess genetic differences between advanced age-related macular degeneration subtypes.
Academic Article Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.
Academic Article Meta-analysis of genome-wide association studies of attention-deficit/hyperactivity disorder.
Academic Article Genome-wide association study of serious blistering skin rash caused by drugs.
Academic Article Proteins encoded in genomic regions associated with immune-mediated disease physically interact and suggest underlying biology.
Academic Article Rapid multipoint linkage analysis of recessive traits in nuclear families, including homozygosity mapping.
Academic Article The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
Academic Article Common variants at CD40 and other loci confer risk of rheumatoid arthritis.
Academic Article Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants.
Academic Article A genome-wide linkage and association scan reveals novel loci for autism.
Academic Article Genetic resistance to diet-induced obesity in chromosome substitution strains of mice.
Academic Article Genome-wide association identifies multiple ulcerative colitis susceptibility loci.
Academic Article Pervasive sharing of genetic effects in autoimmune disease.
Academic Article Genetic modifiers of hypertension in soluble guanylate cyclase a1-deficient mice.
Academic Article Integrating autoimmune risk loci with gene-expression data identifies specific pathogenic immune cell subsets.
Academic Article Genome-wide association studies for common diseases and complex traits.
Academic Article A genetic linkage map of the laboratory rat, Rattus norvegicus.
Academic Article Integrated detection and population-genetic analysis of SNPs and copy number variation.
Academic Article Systematic haplotype analysis resolves a complex plasma plant sterol locus on the Micronesian Island of Kosrae.
Academic Article Autosomal monoallelic expression in the mouse.
Academic Article Genomewide scan of multiple sclerosis in Finnish multiplex families.
Academic Article High-resolution haplotype structure in the human genome.
Academic Article A genome-wide association study identifies IL23R as an inflammatory bowel disease gene.
Academic Article A framework for variation discovery and genotyping using next-generation DNA sequencing data.
Academic Article Seven new loci associated with age-related macular degeneration.
Concept Genome-Wide Association Study
Concept Genome
Concept Genome, Human
Concept Human Genome Project
Concept Genome, Bacterial
Academic Article Weight loss after gastric bypass is associated with a variant at 15q26.1.
Academic Article Polygenic transmission and complex neuro developmental network for attention deficit hyperactivity disorder: genome-wide association study of both common and rare variants.
Academic Article Genome-wide meta-analysis identifies new susceptibility loci for migraine.
Academic Article Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls.
Academic Article Genome-wide analysis of immune system genes by expressed sequence Tag profiling.
Academic Article Association between variants of PRDM1 and NDP52 and Crohn's disease, based on exome sequencing and functional studies.
Academic Article Germline mutations affecting Ga11 in hypoparathyroidism.
Academic Article Deep resequencing of GWAS loci identifies rare variants in CARD9, IL23R and RNF186 that are associated with ulcerative colitis.
Academic Article Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
Academic Article Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches.
Academic Article Searching for missing heritability: designing rare variant association studies.
Academic Article An excess of risk-increasing low-frequency variants can be a signal of polygenic inheritance in complex diseases.
Academic Article Allele-specific methylation occurs at genetic variants associated with complex disease.
Academic Article Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.
Academic Article Distribution and medical impact of loss-of-function variants in the Finnish founder population.
Academic Article Annotation of loci from genome-wide association studies using tissue-specific quantitative interaction proteomics.
Academic Article Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles.
Academic Article A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.
Academic Article Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases.
Academic Article Human genomics. Effect of predicted protein-truncating genetic variants on the human transcriptome.
Academic Article Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci.
Academic Article LD Score regression distinguishes confounding from polygenicity in genome-wide association studies.
Academic Article Genetic and epigenetic fine mapping of causal autoimmune disease variants.
Academic Article High-density mapping of the MHC identifies a shared role for HLA-DRB1*01:03 in inflammatory bowel diseases and heterozygous advantage in ulcerative colitis.
Academic Article Complex host genetics influence the microbiome in inflammatory bowel disease.
Academic Article Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations.
Academic Article Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores.
Academic Article Interpreting de novo Variation in Human Disease Using denovolyzeR.
Academic Article Exploring the genetics of irritable bowel syndrome: a GWA study in the general population and replication in multinational case-control cohorts.
Academic Article An atlas of genetic correlations across human diseases and traits.
Academic Article Partitioning heritability by functional annotation using genome-wide association summary statistics.
Academic Article Abundant contribution of short tandem repeats to gene expression variation in humans.
Academic Article New data and an old puzzle: the negative association between schizophrenia and rheumatoid arthritis.
Academic Article Survey of variation in human transcription factors reveals prevalent DNA binding changes.
Academic Article Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population.
Academic Article High-Quality Exome Sequencing of Whole-Genome Amplified Neonatal Dried Blood Spot DNA.
Academic Article Phenotypic extremes in rare variant study designs.
Academic Article Network Analysis of Genome-Wide Selective Constraint Reveals a Gene Network Active in Early Fetal Brain Intolerant of Mutation.
Academic Article Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine.
Academic Article The genetic architecture of type 2 diabetes.
Grant Joint SNP and CNV calling in 1000 Genomes sequence data
Grant The Haplotype Map of the Laboratory Mouse Genome
Grant 3/3-Identifying regulatory mutations that influence neuropsychiatric disease
Grant 2/4-Psychiatric GWAS Consortium: Genomic Follow-Up Next-Gen Sequencing & Genotypi
Grant A Unified System for Genome-Wide Association Analysis
Grant 3/5-The Psychiatric GWAS Consortium: Integrated &Coordinated GWAS Meta-Analyses
Grant Defining the allelic spectrum of GWAS hits in IBD across phenotype and population
Grant 2/5-Elucidating the Genetic Architecture of Autism by Deep Genomic Sequencing
Grant Genetics, Genes, and Pathways in Inflammatory Bowel Disease (IBD)
Academic Article Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.
Academic Article High-throughput discovery of novel developmental phenotypes.
Academic Article A framework for the detection of de novo mutations in family-based sequencing data.
Academic Article Quantifying unobserved protein-coding variants in human populations provides a roadmap for large-scale sequencing projects.
Academic Article Protective coding variants in CFH and PELI3 and a variant near CTRB1 are associated with age-related macular degeneration†.
Academic Article The ExAC browser: displaying reference data information from over 60 000 exomes.
Academic Article Association of Liver Injury From Specific Drugs, or Groups of Drugs, With Polymorphisms in HLA and Other Genes in a Genome-Wide Association Study.
Academic Article Whole-genome view of the consequences of a population bottleneck using 2926 genome sequences from Finland and United Kingdom.
Academic Article Estimating the selective effects of heterozygous protein-truncating variants from human exome data.
Academic Article Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations.
Academic Article Significant Locus and Metabolic Genetic Correlations Revealed in Genome-Wide Association Study of Anorexia Nervosa.
Academic Article Fine-mapping inflammatory bowel disease loci to single-variant resolution.
Academic Article Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.
Grant The Autism Sequencing Consortium: Autism Gene Discovery in >50,000 Exomes
Academic Article Fine-mapping of genetic loci driving spontaneous clearance of hepatitis C virus infection.
Academic Article Whole genome sequencing in psychiatric disorders: the WGSPD consortium.
Academic Article Principles and methods of in-silico prioritization of non-coding regulatory variants.
Academic Article Functional variants in the LRRK2 gene confer shared effects on risk for Crohn's disease and Parkinson's disease.
Academic Article Host genetic variation and its microbiome interactions within the Human Microbiome Project.
Academic Article Publisher Correction: Whole genome sequencing in psychiatric disorders: the WGSPD consortium.
Academic Article Genetic variants and pathways implicated in a pediatric inflammatory bowel disease cohort.
Academic Article An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.
Academic Article Medical relevance of protein-truncating variants across 337,205 individuals in the UK Biobank study.
Academic Article Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families.
Academic Article Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.
Academic Article Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides.
Academic Article Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum.
Academic Article Analysis of shared heritability in common disorders of the brain.
Academic Article Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.
Academic Article Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.
Academic Article The critical needs and challenges for genetic architecture studies in Africa.
Academic Article Phenome-wide association studies across large population cohorts support drug target validation.
Academic Article Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder.
Academic Article Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder.
Academic Article Contribution of rare and common variants to intellectual disability in a sub-isolate of Northern Finland.
Academic Article A genome-wide association study of shared risk across psychiatric disorders implicates gene regulation during fetal neurodevelopment.
Academic Article Identification of common genetic risk variants for autism spectrum disorder.
Academic Article Association of Genetic Variants in NUDT15 With Thiopurine-Induced Myelosuppression in Patients With Inflammatory Bowel Disease.
Academic Article Polygenic adaptation on height is overestimated due to uncorrected stratification in genome-wide association studies.
Academic Article Predicting Polygenic Risk of Psychiatric Disorders.
Academic Article Clinical use of current polygenic risk scores may exacerbate health disparities.
Academic Article Genome-wide association study identifies 30 loci associated with bipolar disorder.
Academic Article Shared Genetic Risk Factors Across Carbamazepine-Induced Hypersensitivity Reactions.
Academic Article Recessive gene disruptions in autism spectrum disorder.
Academic Article Genome-wide association study implicates CHRNA2 in cannabis use disorder.
Academic Article Intra- and Inter-cellular Rewiring of the Human Colon during Ulcerative Colitis.
Academic Article RICOPILI: Rapid Imputation for COnsortias PIpeLIne.
Academic Article Genetic architecture of human plasma lipidome and its link to cardiovascular disease.
Academic Article Polygenic burden in focal and generalized epilepsies.
Academic Article International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci.
Academic Article Comparative genetic architectures of schizophrenia in East Asian and European populations.
Academic Article A large-scale genomic investigation of susceptibility to infection and its association with mental disorders in the Danish population.
Academic Article Identification of pathogenic variant enriched regions across genes and gene families.
Academic Article Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders.
Academic Article A large population-based investigation into the genetics of susceptibility to gastrointestinal infections and the link between gastrointestinal infections and mental illness.
Academic Article Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.
Academic Article Polygenic and clinical risk scores and their impact on age at onset and prediction of cardiometabolic diseases and common cancers.
Academic Article Trans-biobank analysis with 676,000 individuals elucidates the association of polygenic risk scores of complex traits with human lifespan.
Academic Article Glycobiology and schizophrenia: a biological hypothesis emerging from genomic research.
Academic Article Rare protein-altering variants in ANGPTL7 lower intraocular pressure and protect against glaucoma.
Academic Article A structural variation reference for medical and population genetics.
Academic Article The mutational constraint spectrum quantified from variation in 141,456 humans.
Academic Article Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17?458 subjects.
Academic Article GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer.
Academic Article Neurological disorder-associated genetic variants in individuals with psychogenic nonepileptic seizures.
Academic Article Polygenic risk heterogeneity among focal epilepsies.
Academic Article Common and Rare Variant Prediction and Penetrance of IBD in a Large, Multi-ethnic, Health System-based Biobank Cohort.
Academic Article Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power.
Grant The Genome Aggregation Database (gnomAD)
Academic Article Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease.
Academic Article Investigating Shared Genetic Basis Across Tourette Syndrome and Comorbid Neurodevelopmental Disorders Along the Impulsivity-Compulsivity Spectrum.
Academic Article Low-coverage sequencing cost-effectively detects known and novel variation in underrepresented populations.
Academic Article Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices.
Academic Article Genome-wide enhancer maps link risk variants to disease genes.
Academic Article Hematopoietic mosaic chromosomal alterations increase the risk for diverse types of infection.
Academic Article A cross-population atlas of genetic associations for 220 human phenotypes.
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.