eXtasy: variant prioritization by genomic data fusion
eXtasy: variant prioritization by genomic data fusion
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New York: Nature Publishing Group US
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Language
English
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Publisher
New York: Nature Publishing Group US
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Contents
By fusing genomic data, the eXtasy tool effectively prioritizes rare human exomic sequence variants as causal disease variants.
Massively parallel sequencing greatly facilitates the discovery of novel disease genes causing Mendelian and oligogenic disorders. However, many mutations are present in any individual genome, and identifying which ones...
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eXtasy: variant prioritization by genomic data fusion
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TN_cdi_proquest_miscellaneous_1566841842
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1566841842
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ISSN
1548-7091
E-ISSN
1548-7105
DOI
10.1038/nmeth.2656
