Improved indel detection in DNA and RNA via realignment with ABRA2
Author(s) -
Lisle E. Mose,
Charles M. Perou,
Joel S. Parker
Publication year - 2019
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/btz033
Subject(s) - indel , computational biology , computer science , dna sequencing , exome , genome , scalability , exome sequencing , biology , genetics , dna , mutation , gene , database , genotype , single nucleotide polymorphism
Genomic variant detection from next-generation sequencing has become established as an extremely important component of research and clinical diagnoses in both cancer and Mendelian disorders. Insertions and deletions (indels) are a common source of variation and can frequently impact functionality, thus making their detection vitally important. While substantial effort has gone into detecting indels from DNA, there is still opportunity for improvement. Further, detection of indels from RNA-Seq data has largely been an afterthought and offers another critical area for variant detection.
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