T. Matise

Alterations in DNA Methylation, Proteomic, and Metabolomic Profiles in African Ancestry Populations with APOL1 Risk Alleles.

Holly Kramer, Julian Avila, Victoria L. Buchanan, Stephen S Rich et autres

BACKGROUND: The APOL1 high-risk haplotype has been associated with chronic kidney disease (CKD) and the deterioration of kidney function, particularly in populations with West African ancestry. However, the mechanisms by which APOL1 risk variants increase the risk for kidney disease and its …

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Epigenetic mechanisms underlying variation of IL-6, a well-established inflammation biomarker and risk factor for cardiovascular disease

Jennifer A. Brody, Ulrike Peters, Jessica I. Lundin, Sungshim L. Park et autres

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Comparison of variant callers using 60 532 multi-ancestry whole genome sequences

Eric Boerwinkle, Namrata Gupta, Albert Smith, Yushi Tang et autres

Whole genome sequencing (WGS) studies play a pivotal role in studying the genetic underpinnings of human diseases and traits. High quality and reproducible variant calling is the cornerstone for the success of downstream analyses, including WGS association studies and polygenic risk prediction. …

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Comparison of variant callers using 60 532 multi-ancestry whole genome sequences

Hufeng Zhou, Zilin Li, Derek Shyr, Xihao Li et autres

Whole genome sequencing (WGS) studies play a pivotal role in studying the genetic underpinnings of human diseases and traits. High quality and reproducible variant calling is the cornerstone for the success of downstream analyses, including WGS association studies and polygenic risk prediction. …

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Localizing the X‐linked orange colour phenotype using feline resource families

Robert A. Grahn, B. M. Lemesch, L. V. Millon, T. Matise et autres

Many genes influencing mammalian coat colours are well conserved. While genes responsible for pelage phenotypes in one species provide strong evidence for a candidate gene in a different species, the X-linked orange phenotype of the domestic cat is unique within mammals. The …

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CEPH Consortium Map of Chromosome 9

Mathias Chiano, Andrew Collins, H. Donis-keller, Nicholas C. Dracopoli et autres

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