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A new tool for prioritization of sequence variants from whole exome sequencing data

Source Code for Biology and Medicine

Jul 1, 2016

Brigitte GlanzmannSoraya Bardien

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Abstract

Whole exome sequencing (WES) has provided a means for researchers to gain access to a highly enriched subset of the human genome in which to search for variants that are likely to be pathogenic and possibly provide important insights into disease mechanisms. In developing countries, bio...read more

Mentioned in this Paper

Anisopodidae
Research Personnel
Genome
Bio-Informatics
Software Tools
Genes
Whole Exome Sequencing
TAPER 1 protein, synthetic
Filtration
Genome, Human
8
37
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A new tool for prioritization of sequence variants from whole exome sequencing data

Source Code for Biology and Medicine

Jul 1, 2016

Brigitte GlanzmannSoraya Bardien

PMID: 27375772

DOI: 10.1186/s13029-016-0056-8

Abstract

Whole exome sequencing (WES) has provided a means for researchers to gain access to a highly enriched subset of the human genome in which to search for variants that are likely to be pathogenic and possibly provide important insights into disease mechanisms. In developing countries, bio...read more

Mentioned in this Paper

Anisopodidae
Research Personnel
Genome
Bio-Informatics
Software Tools
8
37

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  • References14
  • Citations
12
  • References14
  • Citations
  • No citations available

    This paper may not have been cited yet.

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