Very low-depth whole-genome sequencing in complex trait association studies | Zendy

Arthur Gilly | Zendy; Lorraine Southam | Zendy; Dániel Süveges | Zendy; Karoline Kuchenbaecker | Zendy; Rachel Moore | Zendy; Giorgio Melloni | Zendy; Konstantinos Hatzikotoulas | Zendy; AlikiEleni Farmaki | Zendy; Graham R. S. Ritchie | Zendy; Jeremy Schwartzentruber | Zendy; Petr Danecek | Zendy; Britt Kilian | Zendy; Martin Pollard | Zendy; Xiangyu Ge | Zendy; Emmanouil Tsafantakis | Zendy; George Dedoussis | Zendy; Eleftheria Zeggini | Zendy

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Very low-depth whole-genome sequencing in complex trait association studies

Author(s) -

Arthur Gilly,

Lorraine Southam,

Dániel Süveges,

Karoline Kuchenbaecker,

Rachel Moore,

Giorgio Melloni,

Konstantinos Hatzikotoulas,

AlikiEleni Farmaki,

Graham R. S. Ritchie,

Jeremy Schwartzentruber,

Petr Danecek,

Britt Kilian,

Martin Pollard,

Xiangyu Ge,

Emmanouil Tsafantakis,

George Dedoussis,

Eleftheria Zeggini

Publication year - 2018

Publication title -

bioinformatics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.599

H-Index - 390

eISSN - 1367-4811

pISSN - 1367-4803

DOI - 10.1093/bioinformatics/bty1032

Subject(s) - genome wide association study , concordance , genotyping , minor allele frequency , genetic association , biology , whole genome sequencing , computational biology , trait , exome , genotype , 1000 genomes project , deep sequencing , genetics , imputation (statistics) , exome sequencing , allele frequency , single nucleotide polymorphism , genome , missing data , computer science , statistics , gene , mathematics , mutation , programming language

Very low-depth sequencing has been proposed as a cost-effective approach to capture low-frequency and rare variation in complex trait association studies. However, a full characterization of the genotype quality and association power for very low-depth sequencing designs is still lacking.

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