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Whole-genome sequencing of African Americans implicates differential genetic architecture in inflammatory bowel disease. Am J Hum Genet 108, 431-445 (2021).
What Is Familial Hypercholesterolemia, and Why Does It Matter?. Circulation 141, 1760-1763 (2020).
A variant-centric perspective on geographic patterns of human allele frequency variation. Elife 9, (2020).
Validation of a Genome-Wide Polygenic Score for Coronary Artery Disease in South Asians. J Am Coll Cardiol 76, 703-714 (2020).
Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms. Cell 170, 199-212.e20 (2017).
Type 2 and interferon inflammation regulate SARS-CoV-2 entry factor expression in the airway epithelium. Nat Commun 11, 5139 (2020).
Transcriptomic signatures across human tissues identify functional rare genetic variation. Science 369, (2020).
Towards population-scale long-read sequencing. Nat Rev Genet 22, 572-587 (2021).
Titin Truncating Variants in Adults Without Known Congestive Heart Failure. J Am Coll Cardiol 75, 1239-1241 (2020).
SVScore: an impact prediction tool for structural variation. Bioinformatics 33, 1083-1085 (2017).
A structural variation reference for medical and population genetics. Nature 581, 444-451 (2020).
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Genet Med 22, 945-953 (2020).
RNA Identification of PRIME Cells Predicting Rheumatoid Arthritis Flares. N Engl J Med 383, 218-228 (2020).
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation. N Engl J Med 376, 21-31 (2017).
Rapid, Paralog-Sensitive CNV Analysis of 2457 Human Genomes Using QuicK-mer2. Genes (Basel) 11, (2020).
Quantifying the regulatory effect size of -acting genetic variation using allelic fold change. Genome Res 27, 1872-1884 (2017).
Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits. Am J Hum Genet 100, 205-215 (2017).
Polygenic Risk Score Identifies Subgroup With Higher Burden of Atherosclerosis and Greater Relative Benefit From Statin Therapy in the Primary Prevention Setting. Circulation 135, 2091-2101 (2017).
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. Nat Commun 11, 3635 (2020).
The Parkinson's Disease Genome-Wide Association Study Locus Browser. Mov Disord 35, 2056-2067 (2020).
Non-parametric Polygenic Risk Prediction via Partitioned GWAS Summary Statistics. Am J Hum Genet 107, 46-59 (2020).
Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression. Genes (Basel) 11, (2020).
A multi-task convolutional deep neural network for variant calling in single molecule sequencing. Nat Commun 10, 998 (2019).
A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease. PLoS Genet 16, e1008629 (2020).
Mapping and characterization of structural variation in 17,795 human genomes. Nature 583, 83-89 (2020).
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism. Cell 180, 568-584.e23 (2020).
Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature 586, 763-768 (2020).
The impact of structural variation on human gene expression. Nat Genet 49, 692-699 (2017).
The impact of sex on gene expression across human tissues. Science 369, (2020).
Identification of Required Host Factors for SARS-CoV-2 Infection in Human Cells. Cell 184, 92-105.e16 (2021).
Human genetic insights into lipoproteins and risk of cardiometabolic disease. Curr Opin Lipidol 28, 113-119 (2017).
The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science 369, 1318-1330 (2020).
Genomic Patterns of De Novo Mutation in Simplex Autism. Cell 171, 710-722.e12 (2017).
Genome-wide profiling of heritable and de novo STR variations. Nat Methods 14, 590-592 (2017).
Genome-Wide Polygenic Score, Clinical Risk Factors, and Long-Term Trajectories of Coronary Artery Disease. Arterioscler Thromb Vasc Biol 40, 2738-2746 (2020).
Genome-wide association meta-analysis for early age-related macular degeneration highlights novel loci and insights for advanced disease. BMC Med Genomics 13, 120 (2020).
Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA. Am J Hum Genet 98, 58-74 (2016).
Genetics of schizophrenia in the South African Xhosa. Science 367, 569-573 (2020).
Genetics of coronary artery disease: discovery, biology and clinical translation. Nat Rev Genet 18, 331-344 (2017).
Genetic variants in microRNA genes and targets associated with cardiovascular disease risk factors in the African-American population. Hum Genet 137, 85-94 (2018).
Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease. N Engl J Med 375, 2349-2358 (2016).
Genetic regulatory effects modified by immune activation contribute to autoimmune disease associations. Nat Commun 8, 266 (2017).
Genetic effects on gene expression across human tissues. Nature 550, 204-213 (2017).
Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort. Epilepsia 61, 249-258 (2020).
Genetic association studies in cardiovascular diseases: Do we have enough power?. Trends Cardiovasc Med 27, 397-404 (2017).
Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects. Nat Commun 9, 4038 (2018).
Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data. Nat Genet 49, 618-624 (2017).