Parliament2: Accurate structural variant calling at scale | Zendy

Samantha Zarate | Zendy; Andrew Carroll | Zendy; Medhat Mahmoud | Zendy; Olga Krasheninina | Zendy; Goo Jun | Zendy; William Salerno | Zendy; Michael C. Schatz | Zendy; Eric Boerwinkle | Zendy; Richard A. Gibbs | Zendy; Fritz J. Sedlazeck | Zendy

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Parliament2: Accurate structural variant calling at scale

Author(s) -

Samantha Zarate,

Andrew Carroll,

Medhat Mahmoud,

Olga Krasheninina,

Goo Jun,

William Salerno,

Michael C. Schatz,

Eric Boerwinkle,

Richard A. Gibbs,

Fritz J. Sedlazeck

Publication year - 2020

Publication title -

gigascience

Language(s) - Uncategorized

Resource type - Journals

SCImago Journal Rank - 2.947

H-Index - 54

ISSN - 2047-217X

DOI - 10.1093/gigascience/giaa145

Subject(s) - computer science , set (abstract data type) , scale (ratio) , data set , sample size determination , data mining , sample (material) , computational biology , artificial intelligence , biology , statistics , mathematics , physics , chemistry , chromatography , quantum mechanics , programming language

Structural variants (SVs) are critical contributors to genetic diversity and genomic disease. To predict the phenotypic impact of SVs, there is a need for better estimates of both the occurrence and frequency of SVs, preferably from large, ethnically diverse cohorts. Thus, the current standard approach requires the use of short paired-end reads, which remain challenging to detect, especially at the scale of hundreds to thousands of samples.

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