A framework for the detection of de novo mutations in family-based sequencing data
A framework for the detection of de novo mutations in family-based sequencing data
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Publisher
England: Nature Publishing Group
Journal title
Language
English
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Publisher
England: Nature Publishing Group
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Scope and Contents
Contents
Germline mutation detection from human DNA sequence data is challenging due to the rarity of such events relative to the intrinsic error rates of sequencing technologies and the uneven coverage across the genome. We developed PhaseByTransmission (PBT) to identify de novo single nucleotide variants and short insertions and deletions (indels) from se...
Alternative Titles
Full title
A framework for the detection of de novo mutations in family-based sequencing data
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Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5255947
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_5255947
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2016.147
