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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 classific...

https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6752314

DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes

About this item

Full title

DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes

Publisher

New York: Nature Publishing Group US

Journal title

Genetics in medicine, 2019-03, Vol.21 (3), p.683-693

Language

English

Formats

Publication information

Publisher

New York: Nature Publishing Group US

More information

Scope and Contents

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...

Alternative Titles

Full title

DNA breakpoint assay reveals a majority of gross duplications occur in tandem reducing VUS classifications in breast cancer predisposition genes

Identifiers

Primary Identifiers

Record Identifier

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

Other Identifiers

ISSN

1098-3600

E-ISSN

1530-0366

DOI

10.1038/s41436-018-0092-7

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