Details

Autor(en) / Beteiligte

• Li, Le
• Leung, Alden King-Yung
• Kwok, Tsz-Piu
• Lai, Yvonne Y Y
• Pang, Iris K
• Chung, Grace Tin-Yun
• Mak, Angel C Y
• Poon, Annie
• Chu, Catherine
• Li, Menglu
• Wu, Jacob J K
• Lam, Ernest T
• Cao, Han
• Lin, Chin
• Sibert, Justin
• Yiu, Siu-Ming
• Xiao, Ming
• Lo, Kwok-Wai
• Kwok, Pui-Yan
• Chan, Ting-Fung
• Yip, Kevin Y

Titel

OMSV enables accurate and comprehensive identification of large structural variations from nanochannel-based single-molecule optical maps

Ist Teil von

• Genome Biology, 2017-12, Vol.18 (1), p.230-230, Article 230

Ort / Verlag

England: BioMed Central

Erscheinungsjahr

2017

Quelle

MEDLINE

Beschreibungen/Notizen

• We present a new method, OMSV, for accurately and comprehensively identifying structural variations (SVs) from optical maps. OMSV detects both homozygous and heterozygous SVs, SVs of various types and sizes, and SVs with or without creating or destroying restriction sites. We show that OMSV has high sensitivity and specificity, with clear performance gains over the latest method. Applying OMSV to a human cell line, we identified hundreds of SVs >2 kbp, with 68 % of them missed by sequencing-based callers. Independent experimental validation confirmed the high accuracy of these SVs. The OMSV software is available at http://yiplab.cse.cuhk.edu.hk/omsv/ .