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Article

Reliable identification of genomic variants from RNA-seq data.

American journal of human genetics - 3 Oct 2013

Piskol Robert, Ramaswami Gokul, Li Jin Billy

Abstract excerpt

Identifying genomic variation is a crucial step for unraveling the relationship between genotype and phenotype and can yield important insights into human diseases. Prevailing methods rely on cost-intensive whole-genome sequencing (WGS) or whole-exome sequencing (WES) approaches while the identification of genomic variants from often existing RNA sequencing (RNA-seq) data remains a challenge because of the...

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Identifiers

PMID: 24075185
DOI: 10.1016/j.ajhg.2013.08.008
PMCID: PMC3791257

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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