S-CAP extends clinical-grade pathogenicity prediction to genetic variants that affect RNA splicing
KA Jagadeesh, JM Paggi, JS Ye, PD Stenson… - BioRxiv, 2018 - biorxiv.org
There are over 15,000 known variants that cause human inherited disease by disrupting
RNA splicing. While several in silico methods such as CADD, EIGEN and LINSIGHT are …
RNA splicing. While several in silico methods such as CADD, EIGEN and LINSIGHT are …
S-CAP extends clinical-grade pathogenicity prediction to genetic variants that affect RNA splicing
KA Jagadeesh, JM Paggi, JS Ye, PD Stenson… - 2018 - europepmc.org
There are over 15,000 known variants that cause human inherited disease by disrupting
RNA splicing. While several in silico methods such as CADD, EIGEN and LINSIGHT are …
RNA splicing. While several in silico methods such as CADD, EIGEN and LINSIGHT are …
[PDF][PDF] S-CAP extends clinical-grade pathogenicity prediction to genetic variants that affect RNA splicing
KA Jagadeesh, JM Paggi, JS Ye, PD Stenson… - scholar.archive.org
There are over 15,000 known variants that cause human inherited disease by disrupting
RNA splicing. While several in silico methods such as CADD, EIGEN and LINSIGHT are …
RNA splicing. While several in silico methods such as CADD, EIGEN and LINSIGHT are …
[PDF][PDF] S-CAP extends clinical-grade pathogenicity prediction to genetic variants that affect RNA splicing
KA Jagadeesh, JM Paggi, JS Ye, PD Stenson… - researchgate.net
There are over 15,000 known variants that cause human inherited disease by disrupting
RNA splicing. While several in silico methods such as CADD, EIGEN and LINSIGHT are …
RNA splicing. While several in silico methods such as CADD, EIGEN and LINSIGHT are …