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Article

Towards accurate detection and genotyping of expressed variants from whole transcriptome sequencing data.

BMC genomics - 12 Apr 2012

Duitama Jorge, Srivastava Pramod K, Măndoiu Ion I

Abstract excerpt

BACKGROUND: Massively parallel transcriptome sequencing (RNA-Seq) is becoming the method of choice for studying functional effects of genetic variability and establishing causal relationships between genetic variants and disease. However, RNA-Seq poses new technical and computational challenges compared to genome sequencing. In particular, mapping transcriptome reads onto the genome is more challenging than...

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PMID: 22537301
DOI: 10.1186/1471-2164-13-S2-S6
PMCID: PMC3394419

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

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