Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program

By sjmartinez • December 10, 2022

Wheeler MM, Stilp AM, Rao S, Halldórsson BV, Beyter D, Wen J, Mihkaylova AV, McHugh CP, Lane J, Jiang MZ, Raffield LM, Jun G, Sedlazeck FJ, Metcalf G, Yao Y, Bis JB, Chami N, de Vries PS, Desai P, Floyd JS, Gao Y, Kammers K, Kim W, Moon JY, Ratan A, Yanek LR, Almasy L, Becker LC, Blangero J, Cho MH, Curran JE, Fornage M, Kaplan RC, Lewis JP, Loos RJF, Mitchell BD, Morrison AC, Preuss M, Psaty BM, Rich SS, Rotter JI, Tang H, Tracy RP, Boerwinkle E, Abecasis GR, Blackwell TW, Smith AV, Johnson AD, Mathias RA, Nickerson DA, Conomos MP, Li Y, Þorsteinsdóttir U, Magnússon MK, Stefansson K, Pankratz ND, Bauer DE, Auer PL, Reiner AP. Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program. Nat Commun. 2022 Dec 8;13(1):7592. doi: 10.1038/s41467-022-35354-7. PMID: 36481753.

Tags: General Internal Medicine, Med Peds, Publications

Researcher Attitudes towards Hypothetical Genetic Research with Navajo People: Results from an Online Survey

Sherman CA, Garrison NA, Claw KG. Researcher Attitudes towards Hypothetical Genetic Research with Navajo People: Results from an Online Survey. HGG Adv. 2025 Sep 27:100524.[...]

Developing and Evaluating a Natural Language Processing Algorithm to Detect Insulin Pump and Continuous Glucose Monitor Use in Electronic Health Records of Patients with Type 1 Diabetes

Everett E, Tiu RA, Zhu B, Feng J, Jackson N, Graham J, Ipp E, Mathioudakis N, Bui AAT, Moin T. Developing and Evaluating a Natural[...]

Effects of Prior Diagnosis on Second Opinions and Pathologist Viewing Behaviors: Results from a Randomized Trial in Breast Pathology

Kerr KF, Eguchi MM, Shucard H, Drew T, Weaver DL, Elmore JG, Brunyé TT. Effects of Prior Diagnosis on Second Opinions and Pathologist Viewing Behaviors:[...]