DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classific...
DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes
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Publisher
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
Purpose
Gross duplications are ambiguous in terms of clinical interpretation due to the limitations of the detection methods that cannot infer their context, namely, whether they occur in tandem or are duplicated and inserted elsewhere in the genome. We investigated the proportion of gross duplications occurring in tandem in breast cancer predis...
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Full title
DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes
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TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6752314
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6752314
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ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/s41436-018-0092-7