Accurate de novo and transmitted indel detection in exome-capture data using microassembly.

ABSTRACT: We present an open-source algorithm, Scalpel (http://scalpel.sourceforge.net/), which combines mapping and assembly for sensitive and specific discovery of insertions and deletions (indels) in exome-capture data. A detailed repeat analysis coupled with a self-tuning k-mer strategy allows Scalpel to outperform other state-of-the-art approaches for indel discovery, particularly in regions containing near-perfect repeats. We analyzed 593 families from the Simons Simplex Collection and demonstrated Scalpel's power to detect long (≥30 bp) transmitted events and enrichment for de novo likely gene-disrupting indels in autistic children.

SUBMITTER: Narzisi G 

PROVIDER: S-EPMC4180789 | biostudies-literature | 2014 Oct

REPOSITORIES: biostudies-literature