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A System for Phenotype Harmonization in the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Program.
Not available
S-EPMC8485147
|
biostudies-literature
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Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale.
Not available
S-EPMC7483769
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biostudies-literature
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Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution.
Not available
S-EPMC6560635
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biostudies-literature
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Whole-exome sequencing identifies rare and low-frequency coding variants associated with LDL cholesterol.
Not available
S-EPMC3928660
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biostudies-literature
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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.
Not available
S-EPMC5945951
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biostudies-literature
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Rare and low-frequency coding variants alter human adult height.
Not available
S-EPMC5302847
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biostudies-literature
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Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis.
Not available
S-EPMC10360040
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biostudies-literature
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Inherited causes of clonal haematopoiesis in 97,691 whole genomes.
Not available
S-EPMC7944936
|
biostudies-literature
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Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program.
Not available
S-EPMC8394596
|
biostudies-literature
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Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.
Not available
S-EPMC4319990
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biostudies-literature
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