Performance evaluation of computational methods for splice-disrupting variants and improving the performance using the machine learning-based framework

H Liu, J Dai, K Li, Y Sun, H Wei, H Wang… - Briefings in …, 2022 - academic.oup.com
A critical challenge in genetic diagnostics is the assessment of genetic variants associated
with diseases, specifically variants that fall out with canonical splice sites, by altering …

Performance evaluation of computational methods for splice-disrupting variants and improving the performance using the machine learning-based framework

H Liu, J Dai, K Li, Y Sun, H Wei… - Briefings in …, 2022 - pubmed.ncbi.nlm.nih.gov
A critical challenge in genetic diagnostics is the assessment of genetic variants associated
with diseases, specifically variants that fall out with canonical splice sites, by altering …

Performance evaluation of computational methods for splice-disrupting variants and improving the performance using the machine learning-based framework

H Liu, J Dai, K Li, Y Sun, H Wei, H Wang… - Briefings in …, 2022 - academic.oup.com
A critical challenge in genetic diagnostics is the assessment of genetic variants associated
with diseases, specifically variants that fall out with canonical splice sites, by altering …

Performance evaluation of computational methods for splice-disrupting variants and improving the performance using the machine learning-based framework.

H Liu, J Dai, K Li, Y Sun, H Wei… - Briefings in …, 2022 - search.ebscohost.com
A critical challenge in genetic diagnostics is the assessment of genetic variants associated
with diseases, specifically variants that fall out with canonical splice sites, by altering …