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Article

Prioritizing disease-linked variants, genes, and pathways with an interactive whole-genome analysis pipeline.

Human mutation - 1 May 2014

Lee In-Hee, Lee Kyungjoon, Hsing Michael, Choe Yongjoon, Park Jin-Ho, Kim Shu Hee, Bohn Justin M, Neu Matthew B, Hwang Kyu-Baek, Green Robert C, Kohane Isaac S, Kong Sek Won

Abstract excerpt

Whole-genome sequencing (WGS) studies are uncovering disease-associated variants in both rare and nonrare diseases. Utilizing the next-generation sequencing for WGS requires a series of computational methods for alignment, variant detection, and annotation, and the accuracy and reproducibility of annotation results are essential for clinical implementation. However, annotating WGS with up to date genomic...

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PMID: 24478219
DOI: 10.1002/humu.22520
PMCID: PMC4130156

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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