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Detecting copy number alterations in RNA-Seq using SuperFreq
Author(s) -
Christoffer Flensburg,
Alicia Oshlack,
Ian J. Majewski
Publication year - 2021
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btab440
Subject(s) - rna seq , computer science , copy number variation , computational biology , biology , genetics , gene , transcriptome , genome , gene expression
Calling copy number alterations (CNAs) from RNA sequencing (RNA-Seq) is challenging, because of the marked variability in coverage across genes and paucity of single nucleotide polymorphisms (SNPs). We have adapted SuperFreq to call absolute and allele sensitive CNAs from RNA-Seq. SuperFreq uses an error-propagation framework to combine and maximize information from read counts and B-allele frequencies.

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