Associated Papers
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS.
Yin X et al.
American Journal of Human Genetics, 2024
Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databases.
Yin X et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Mutation profiling of cancer drivers in Brazilian colorectal cancer.
Dos Santos W et al.
Scientific Reports, 2019
31548566 (PubMed )
Supplement: 41598_2019_49611_MOESM1_ESM.pdf
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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