Article
A thesaurus of genetic variation for interrogation of repetitive genomic regions.
Nucleic acids research - 26 May 2015
Kerzendorfer Claudia, Konopka Tomasz, Nijman Sebastian M B
Abstract excerpt
Detecting genetic variation is one of the main applications of high-throughput sequencing, but is still challenging wherever aligning short reads poses ambiguities. Current state-of-the-art variant calling approaches avoid such regions, arguing that it is necessary to sacrifice detection sensitiv...
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