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Mapping and characterization of structural variation in 17,795 human genomes. Nature 583, 83-89 (2020).
Expanded CAG Repeats in ATXN1, ATXN2, ATXN3, and HTT in the 1000 Genomes Project. Mov Disord 36, 514-518 (2021).
Genetic association studies in cardiovascular diseases: Do we have enough power?. Trends Cardiovasc Med 27, 397-404 (2017).
Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature 586, 763-768 (2020).
A variant-centric perspective on geographic patterns of human allele frequency variation. Elife 9, (2020).
Combining Imaging and Genetics to Predict Recurrence of Anticoagulation-Associated Intracerebral Hemorrhage. Stroke 51, 2153-2160 (2020).
Copy number variants and fixed duplications among 198 rhesus macaques (Macaca mulatta). PLoS Genet 16, e1008742 (2020).
Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data. Genet Med 22, 945-953 (2020).
Serum sphingolipids and incident diabetes in a US population with high diabetes burden: the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). Am J Clin Nutr 112, 57-65 (2020).
Association of structural variation with cardiometabolic traits in Finns. Am J Hum Genet 108, 583-596 (2021).
The impact of structural variation on human gene expression. Nat Genet 49, 692-699 (2017).
Non-parametric Polygenic Risk Prediction via Partitioned GWAS Summary Statistics. Am J Hum Genet 107, 46-59 (2020).
A structural variation reference for medical and population genetics. Nature 581, 444-451 (2020).
Identification of Required Host Factors for SARS-CoV-2 Infection in Human Cells. Cell 184, 92-105.e16 (2021).
Towards population-scale long-read sequencing. Nat Rev Genet 22, 572-587 (2021).
Determinants of telomere length across human tissues. Science 369, (2020).
Haplotype-resolved diverse human genomes and integrated analysis of structural variation. Science 372, (2021).
Analysis of predicted loss-of-function variants in UK Biobank identifies variants protective for disease. Nat Commun 9, 1613 (2018).
A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease. PLoS Genet 16, e1008629 (2020).
Polygenic background modifies penetrance of monogenic variants for tier 1 genomic conditions. Nat Commun 11, 3635 (2020).
SVScore: an impact prediction tool for structural variation. Bioinformatics 33, 1083-1085 (2017).
Chromosome-scale, haplotype-resolved assembly of human genomes. Nat Biotechnol 39, 309-312 (2021).
The Parkinson's Disease Genome-Wide Association Study Locus Browser. Mov Disord 35, 2056-2067 (2020).
Genetic effects on gene expression across human tissues. Nature 550, 204-213 (2017).
The GTEx Consortium atlas of genetic regulatory effects across human tissues. Science 369, 1318-1330 (2020).
Genetics of schizophrenia in the South African Xhosa. Science 367, 569-573 (2020).
Genome-Wide Polygenic Score, Clinical Risk Factors, and Long-Term Trajectories of Coronary Artery Disease. Arterioscler Thromb Vasc Biol 40, 2738-2746 (2020).
Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data. Nat Genet 49, 618-624 (2017).
Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium. Genome Med 13, 66 (2021).
What Is Familial Hypercholesterolemia, and Why Does It Matter?. Circulation 141, 1760-1763 (2020).
Genetic Risk, Adherence to a Healthy Lifestyle, and Coronary Disease. N Engl J Med 375, 2349-2358 (2016).
Genetics of coronary artery disease: discovery, biology and clinical translation. Nat Rev Genet 18, 331-344 (2017).
Is Coronary Atherosclerosis One Disease or Many? Setting Realistic Expectations for Precision Medicine. Circulation 135, 1005-1007 (2017).
Concerted Genetic Function in Blood Traits. Cell 167, 1167-1169 (2016).
Genetic regulatory effects modified by immune activation contribute to autoimmune disease associations. Nat Commun 8, 266 (2017).
Cell type-specific genetic regulation of gene expression across human tissues. Science 369, (2020).
Genetic variants in microRNA genes and targets associated with cardiovascular disease risk factors in the African-American population. Hum Genet 137, 85-94 (2018).
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans. Nat Genet 49, 527-536 (2017).
A multi-task convolutional deep neural network for variant calling in single molecule sequencing. Nat Commun 10, 998 (2019).
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).
Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line. Genome Res 28, 1126-1135 (2018).
Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects. Brain 143, 2106-2118 (2020).
The impact of sex on gene expression across human tissues. Science 369, (2020).
RNA Identification of PRIME Cells Predicting Rheumatoid Arthritis Flares. N Engl J Med 383, 218-228 (2020).