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Reducing INDEL errors in whole-genome and exome sequencing

bioRxiv

Jun 10, 2014

Han FangGholson J. Lyon

Abstract

Background INDELs, especially those disrupting protein-coding regions of the genome, have been associated with human diseases. However, there are still many errors with INDEL variant calling, driven by library preparation, sequencing biases, and algorithm artifacts. We have recently dev...read more

Mentioned in this Paper

Genome
Scalpel
Nucleic Acid Sequencing
Whole Exome Sequencing
Whole Genome Amplification
Sequencing
Microarray Platform
Simulation
Homopolymer
Validation Studies
28
1
46
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Reducing INDEL errors in whole-genome and exome sequencing

bioRxiv

Jun 10, 2014

Han FangGholson J. Lyon

PMID: 990006148

DOI: 10.1101/006148

Abstract

Background INDELs, especially those disrupting protein-coding regions of the genome, have been associated with human diseases. However, there are still many errors with INDEL variant calling, driven by library preparation, sequencing biases, and algorithm artifacts. We have recently dev...read more

Mentioned in this Paper

Genome
Scalpel
Nucleic Acid Sequencing
Whole Exome Sequencing
Whole Genome Amplification
Sequencing
Microarray Platform
Simulation
Homopolymer
Validation Studies
28
1
46

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