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Titel:

Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes.

Dokumenttyp:
Meta-Analysis; Journal Article; Research Support, N.I.H., Extramural
Autor(en):
Yu, Mengyao; Aguirre, Matthew; Jia, Meiwen; Gjoni, Ketrin; Cordova-Palomera, Aldo; Munger, Chad; Amgalan, Dulguun; Rosa Ma, X; Pereira, Alexandre; Tcheandjieu, Catherine; Seidman, Christine; Seidman, Jonathan; Tristani-Firouzi, Martin; Chung, Wendy; Goldmuntz, Elizabeth; Srivastava, Deepak; Loos, Ruth J F; Chami, Nathalie; Cordell, Heather; Dreßen, Martina; Mueller-Myhsok, Bertram; Lahm, Harald; Krane, Markus; Pollard, Katherine S; Engreitz, Jesse M; Gagliano Taliun, Sarah A; Gelb, Bruce D; Prie...     »
Abstract:
BACKGROUND: Congenital heart disease (CHD) is highly heritable, but the power to identify inherited risk has been limited to analyses of common variants in small cohorts. METHODS: We performed reimputation of 4 CHD cohorts (n=55 342) to the TOPMed reference panel (freeze 5), permitting meta-analysis of 14 784 017 variants including 6 035 962 rare variants of high imputation quality as validated by whole genome sequencing. RESULTS: Meta-analysis identified 16 novel loci, including 12 rare variant...     »
Zeitschriftentitel:
Circ Genom Precis Med
Jahr:
2023
Band / Volume:
16
Heft / Issue:
3
Seitenangaben Beitrag:
258-266
Volltext / DOI:
doi:10.1161/CIRCGEN.122.003968
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/37026454
TUM Einrichtung:
Klinik für Herz- und Gefäßchirurgie (DHM) (Prof. Lange)
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