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Article

Discover hidden splicing variations by mapping personal transcriptomes to personal genomes.

Nucleic acids research - 15 Dec 2015

Stein Shayna, Lu Zhi-Xiang, Bahrami-Samani Emad, Park Juw Won, Xing Yi

Abstract excerpt

RNA-seq has become a popular technology for studying genetic variation of pre-mRNA alternative splicing. Commonly used RNA-seq aligners rely on the consensus splice site dinucleotide motifs to map reads across splice junctions. Consequently, genomic variants that create novel splice site dinucleotides may produce splice junction RNA-seq reads that cannot be mapped to the reference genome. We developed and...

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Identifiers

PMID: 26578562
DOI: 10.1093/nar/gkv1099
PMCID: PMC4678817

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ICA1
OAS1

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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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