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Article

Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.

Genetics - 1 Jun 2015

Starita Lea M, Young David L, Islam Muhtadi, Kitzman Jacob O, Gullingsrud Justin, Hause Ronald J, Fowler Douglas M, Parvin Jeffrey D, Shendure Jay, Fields Stanley

Abstract excerpt

Interpreting variants of uncertain significance (VUS) is a central challenge in medical genetics. One approach is to experimentally measure the functional consequences of VUS, but to date this approach has been post hoc and low throughput. Here we use massively parallel assays to measure the effects of nearly 2000 missense substitutions in the RING domain of BRCA1 on its E3 ubiquitin ligase activity and its...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Hereditary Breast and Ovarian Cancer Syndrome

Share to High-Throughput Nucleotide Sequencing

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Source

Open in PubMed Open full text

Identifiers

PMID: 25823446
DOI: 10.1534/genetics.115.175802
PMCID: PMC4492368

Genes

BRCA1
BARD1

Provenance

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