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One or more keywords matched the following items that are connected to Altshuler, David
Item TypeName
Mentoring - Completed Student Project Characterizing Genome Structure of Admixed Populations for Disease Association Studies
Academic Article An SNP map of the human genome generated by reduced representation shotgun sequencing.
Academic Article Quality and completeness of SNP databases.
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 Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge.
Academic Article Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels.
Academic Article Mapping and sequencing of structural variation from eight human genomes.
Academic Article Genome-wide detection and characterization of positive selection in human populations.
Academic Article Evaluating and improving power in whole-genome association studies using fixed marker sets.
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 Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host disease.
Academic Article Analysis of case-control association studies with known risk variants.
Academic Article Common variants at 30 loci contribute to polygenic dyslipidemia.
Academic Article Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus.
Academic Article Common variants in 40 genes assessed for diabetes incidence and response to metformin and lifestyle intervention in the diabetes prevention program.
Academic Article Human genome sequence variation and the search for genes influencing stroke.
Academic Article Guilt beyond a reasonable doubt.
Academic Article Biological, clinical and population relevance of 95 loci for blood lipids.
Academic Article Copy number variation: new insights in genome diversity.
Academic Article African ancestry and its correlation to type 2 diabetes in African Americans: a genetic admixture analysis in three U.S. population cohorts.
Academic Article Two independent alleles at 6q23 associated with risk of rheumatoid arthritis.
Academic Article Genetic association analysis of LARS2 with type 2 diabetes.
Academic Article Common variants at 10 genomic loci influence hemoglobin A1(C) levels via glycemic and nonglycemic pathways.
Academic Article Common genetic variants and modification of penetrance of BRCA2-associated breast cancer.
Academic Article Genome-wide association study for coronary artery calcification with follow-up in myocardial infarction.
Academic Article Hypothesis-based analysis of gene-gene interactions and risk of myocardial infarction.
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 New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk.
Academic Article A map of human genome variation from population-scale sequencing.
Academic Article Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure.
Academic Article Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease.
Academic Article A high-density admixture map for disease gene discovery in african americans.
Academic Article Detecting recent positive selection in the human genome from haplotype structure.
Academic Article Partners in crime.
Academic Article The case for selection at CCR5-Delta32.
Academic Article Whole population, genome-wide mapping of hidden relatedness.
Academic Article Variants in MTNR1B influence fasting glucose levels.
Academic Article Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions.
Academic Article Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs.
Academic Article Genetics. Harvesting medical information from the human family tree.
Academic Article A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
Academic Article Genome-wide association study identifies eight loci associated with blood pressure.
Academic Article Integrating common and rare genetic variation in diverse human populations.
Academic Article Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
Academic Article Comparing strategies to fine-map the association of common SNPs at chromosome 9p21 with type 2 diabetes and myocardial infarction.
Academic Article Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.
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 DASH: a method for identical-by-descent haplotype mapping uncovers association with recent variation.
Academic Article Completing the map of human genetic variation.
Academic Article Challenges and standards in integrating surveys of structural variation.
Academic Article Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes.
Academic Article Extension of type 2 diabetes genome-wide association scan results in the diabetes prevention program.
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 A genome-wide association study identifies LIPA as a susceptibility gene for coronary artery disease.
Academic Article Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.
Academic Article Comparison of fine-scale recombination rates in humans and chimpanzees.
Academic Article Biases and reconciliation in estimates of linkage disequilibrium in the human genome.
Academic Article The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects.
Academic Article Genetic mapping in human disease.
Academic Article Six new loci associated with body mass index highlight a neuronal influence on body weight regulation.
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 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 Large-scale association analysis identifies new risk loci for coronary artery disease.
Academic Article Increased power of mixed models facilitates association mapping of 10 loci for metabolic traits in an isolated population.
Academic Article Association of genetic variation with systolic and diastolic blood pressure among African Americans: the Candidate Gene Association Resource study.
Academic Article Variation in genome-wide mutation rates within and between human families.
Academic Article Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
Academic Article Positive natural selection in the human lineage.
Academic Article Linkage disequilibrium and heritability of copy-number polymorphisms within duplicated regions of the human genome.
Academic Article Replicating genotype-phenotype associations.
Academic Article From Darwin's finches to canaries in the coal mine--mining the genome for new biology.
Academic Article Consistent association of type 2 diabetes risk variants found in europeans in diverse racial and ethnic groups.
Academic Article Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
Academic Article The Lin28/let-7 axis regulates glucose metabolism.
Academic Article Efficiency and power as a function of sequence coverage, SNP array density, and imputation.
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 The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits.
Academic Article Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk.
Academic Article Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans.
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 European admixture on the Micronesian island of Kosrae: lessons from complete genetic information.
Academic Article Genome coverage and sequence fidelity of phi29 polymerase-based multiple strand displacement whole genome amplification.
Academic Article New susceptibility locus for coronary artery disease on chromosome 3q22.3.
Academic Article A framework for variation discovery and genotyping using next-generation DNA sequencing data.
Concept Genome-Wide Association Study
Concept Genome
Concept Genome, Human
Concept Human Genome Project
Academic Article Evaluating empirical bounds on complex disease genetic architecture.
Academic Article Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.
Academic Article Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.
Academic Article Distribution and medical impact of loss-of-function variants in the Finnish founder population.
Academic Article Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.
Academic Article Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans.
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 The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease.
Academic Article Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.
Academic Article Genome-wide meta-analysis in alopecia areata resolves HLA associations and reveals two new susceptibility loci.
Academic Article Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity.
Academic Article Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci.
Academic Article Genome Sequencing of Multiple Primary Tumors Reveals a Novel PALB2 Variant.
Academic Article From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.
Academic Article The genetic architecture of type 2 diabetes.
Grant Multiethnic Study of Type 2 Diabetes Genes
Grant Human Genome Sequence Variation &the Inherited Basis
Grant Design/Production of Haplotype Map of the Human Genome
Grant Comprehensive Sequencing and Analysis of Variation in NHLBI Cohorts
Grant Low-Pass Sequencing and High-Density SNP Genotyping for Type 2 Diabetes
Grant Comprehensive Sequencing and Analysis of Variation in NHLBI Cohorts
Grant Genomic variation, hapmap and disease
Grant Isogenic Human Pluripotent Stem Cell-Based Models of Human Disease Mutations
Grant The Impact of Human Gene Knockouts in Type 2 Diabetes and Related Traits
Grant Genome Sequence Variation
Grant A Genome-wide Association Study for Early-Onset Myocardial Infarction
Grant A Human-Centered Pharmacogenomic Screen of Metformin Action
Academic Article A reference panel of 64,976 haplotypes for genotype imputation.
Academic Article Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project.
Academic Article An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans.
Academic Article Evaluating the contribution of rare variants to type 2 diabetes and related traits using pedigrees.
Academic Article Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
Academic Article Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability.
Search Criteria
  • Genome
Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.