Associated Papers
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
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Human Genetics, 2024
39085601 (PubMed )
Supplement: 439_2024_2691_MOESM2_ESM.xlsx › BICD2
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s3.xls › NovelVar
Improved inherited peripheral neuropathy genetic diagnosis by whole-exome sequencing.
Drew AP et al.
Molecular Genetics & Genomic Medicine, 2015
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