4.7 Article

Wessim: a whole-exome sequencing simulator based on in silico exome capture

期刊

BIOINFORMATICS
卷 29, 期 8, 页码 1076-1077

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OXFORD UNIV PRESS
DOI: 10.1093/bioinformatics/btt074

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资金

  1. National Institute of Health [U54-HL108460, 5R01-H6004962]
  2. National Science Foundation [CCF-1115206]
  3. National Institute of Child Health and Human Development [1P01HD070494-01]
  4. Direct For Computer & Info Scie & Enginr
  5. Division of Computing and Communication Foundations [1115206] Funding Source: National Science Foundation

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We propose a targeted re-sequencing simulator Wessim that generates synthetic exome sequencing reads from a given sample genome. Wessim emulates conventional exome capture technologies, including Agilent's SureSelect and NimbleGen's SeqCap, to generate DNA fragments from genomic target regions. The target regions can be either specified by genomic coordinates or inferred from in silico probe hybridization. Coupled with existing next-generation sequencing simulators, Wessim generates a realistic artificial exome sequencing data, which is essential for developing and evaluating exome-targeted variant callers.

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