Christopher Campbell

No ORCID on file · 1 paper in corpus · active 2021
2021
Comparison of in Silico Strategies to Prioritize Rare Genomic Variants Impacting RNA Splicing for the Diagnosis of Genomic Disorders
·doi:10.21203/rs.3.rs-311579/v1

The development of computational methods to assess pathogenicity of pre-messenger RNA splicing variants is critical for diagnosis of human disease. We assessed the capability of eight algorithms, and a consensus approach, to prioritize 250 …