CADD v1.7: using protein language models, regulatory CNNs and other nucleotide-level scores to improve genome-wide variant predictions.

Autor: Schubach, Max, Maass, Thorben, Nazaretyan, Lusiné, Röner, Sebastian, Kircher, Martin

Publikováno v: Nucleic Acids Research; 1/5/2024, Vol. 52 Issue D1, pD1143-D1154, 12p

The Regulatory Mendelian Mutation score for GRCh38.

Autor: Schubach M; Exploratory Diagnostic Sciences, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany., Nazaretyan L; Exploratory Diagnostic Sciences, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany., Kircher M; Exploratory Diagnostic Sciences, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, 10117 Berlin, Germany.; Institute of Human Genetics, University Medical Center Schleswig-Holstein, University of Lübeck, 23562 Lübeck, Germany.

Publikováno v: GigaScience [Gigascience] 2022 Dec 28; Vol. 12. Date of Electronic Publication: 2023 Apr 21.