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Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes in a 3,552 Japanese whole-genome sequence dataset (3.5KJPNv2)

2020-07-17

Abstract excerpt

Identification of pathogenic germline variants yet no clinical evidence in BRCA genes has become important in patient care of hereditary breast and ovarian cancer syndrome (HBOC). Computational scoring and prospective cohort studies may help to identify such pathogenic variants. We annotated the variants in the BRCA1 and BRCA2 genes from a dataset of 3,552 whole-genome sequences obtained from members of the gen...

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Literature Corpus work: d8a9ad39-99e0-5b3c-9cb1-d28dcc5ea19f
DOI: 10.1101/2020.07.17.208454

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Novel candidates of pathogenic variants of the BRCA1 and BRCA2 genes in a 3,552 Japanese whole-genome sequence dataset (3.5KJPNv2)DOI 10.1101/2020.07.17.208454Read

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Novel candidates of pathogenic variants of the <i>BRCA1</i> and <i>BRCA2</i> genes in a 3,552 Japanese whole-genome sequence dataset (3.5KJPNv2)

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