Publications by authors named "Sarah E Brnich"

4Publications

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.

Genome Med 2019 11 29;11(1):77. Epub 2019 Nov 29.

Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

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http://dx.doi.org/10.1186/s13073-019-0683-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6884856PMC
November 2019

Quantifying the potential of functional evidence to reclassify variants of uncertain significance in the categorical and Bayesian interpretation frameworks.

Hum Mutat 2018 11 5;39(11):1531-1541. Epub 2018 Sep 5.

Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1002/humu.23609DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6548460PMC
November 2018

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease.

Genet Med 2018 09 10;20(9):918-926. Epub 2018 Jul 10.

Department of Genetics, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.

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http://dx.doi.org/10.1038/s41436-018-0100-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6679919PMC
September 2018