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TOPMed

Preprints

Preprints
Submitting Author Title Preprint Date Sort ascending Preprint DOI
Sedlazeck, Fritz Structural variation across 138,134 samples in the TOPMed consortium 2023 bioRxiv
Montgomery, Stephen The functional impact of rare variation across the regulatory cascade 2022 bioRxiv
Cho, Michael Genetic Regulators of Sputum Mucin Concentration Revealed by GWAS and Their Associations with Chronic Bronchitis and Acute Exacerbations of COPD 2022 bioRxiv
Minster, Ryan L A population-specific missense variant rs1597000001 in CETP promotes a favorable lipid profile and reduces CETP activity 2021 medRxiv
Mak, Angel CY Gene expression in African Americans and Latinos reveals ancestry-specific patterns of genetic architecture 2021 10.1101/2021.08.19.456901
Saferali, Aabida Characterization of a COPD-Associated NPNT Functional Splicing Genetic Variant in Human Lung Tissue via Long-Read Sequencing 2020 10.1101/2020.10.20.20203927
Lettre, Guillaume find-tfbs: a tool to identify functional non-coding variants associated with complex human traits using open chromatin maps and phased whole-genome sequences 2020 10.1101/2020.11.23.394296
Wessel, Jennifer Rare Non-coding Variation Identified by Large Scale Whole Genome Sequencing Reveals Unexplained Heritability of Type 2 Diabetes 2020
Katz, Daniel H Mechanisms Linking Blood Type, Blood Proteins, and COVID-19: Insights from Black and White Populations 2020 10.1101/2020.06.09.20125690
Shetty, Amol Rare variant enriched identity-by-descent enables the detection of distant relatedness and older divergence between populations 2020 10.1101/2020.05.05.079541
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