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Accurate detection of de novo and transmitted INDELs within exome-capture data using micro-assembly

bioRxiv

Dec 13, 2013

Giuseppe NarzisiMichael C Schatz

Abstract

We present a new open-source algorithm, Scalpel, for sensitive and specific discovery of INDELs in exome-capture data. By combining the power of mapping and assembly, Scalpel carefully searches the de Bruijn graph for sequence paths that span each exon. A detailed repeat analysis couple...read more

Mentioned in this Paper

Acquired Partial Lipodystrophy
Posterior Semilunar Lobule
INDEL Mutation
Simple Lobule of Cerebellum
Scalpel
Exome
Whole Exome Sequencing
Simulation
Molecular Assembly/Self Assembly
Analysis
43
29
Paper Details
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Accurate detection of de novo and transmitted INDELs within exome-capture data using micro-assembly

bioRxiv

Dec 13, 2013

Giuseppe NarzisiMichael C Schatz

PMID: 990001370

DOI: 10.1101/001370

Abstract

We present a new open-source algorithm, Scalpel, for sensitive and specific discovery of INDELs in exome-capture data. By combining the power of mapping and assembly, Scalpel carefully searches the de Bruijn graph for sequence paths that span each exon. A detailed repeat analysis couple...read more

Mentioned in this Paper

Acquired Partial Lipodystrophy
Posterior Semilunar Lobule
INDEL Mutation
Simple Lobule of Cerebellum
Scalpel
Exome
Whole Exome Sequencing
Simulation
Molecular Assembly/Self Assembly
Analysis
43
29
Paper Details
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  • Citations
  • finger pointing at paper

    References currently unavailable

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