Details

Autor(en) / Beteiligte

• Narzisi, Giuseppe
• O'Rawe, Jason A
• Iossifov, Ivan
• Fang, Han
• Lee, Yoon-Ha
• Wang, Zihua
• Wu, Yiyang
• Lyon, Gholson J
• Wigler, Michael
• Schatz, Michael C

Titel

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

Ist Teil von

• Nature methods, 2014-10, Vol.11 (10), p.1033-1036

Ort / Verlag

United States

Erscheinungsjahr

2014

Quelle

MEDLINE

Beschreibungen/Notizen

• 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.