Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequ...
Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications
About this item
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Publisher
New York: Nature Publishing Group US
Journal title
Language
English
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Publisher
New York: Nature Publishing Group US
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Scope and Contents
Contents
Gerton Lunter and colleagues report Platypus software, which combines a haplotype-based multi-sample variant caller with local sequence assembly in a Bayesian statistical framework. They demonstrate applications to exome and whole-genome data sets, to the identification
de novo
mutations in parent-offspring trios and to the genotyping of HLA...
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Full title
Integrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4753679
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4753679
Other Identifiers
ISSN
1061-4036
E-ISSN
1546-1718
DOI
10.1038/ng.3036
