Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions.
Josephs KS, Roberts AM, Theotokis P, Walsh R, Ostrowski PJ, Edwards M, Fleming A, Thaxton C, Roberts JD, Care M, Zareba W, Adler A, Sturm AC, Tadros R, Novelli V, Owens E, Bronicki L, Jarinova O, Callewaert B, Peters S, Lumbers T, Jordan E, Asatryan B, Krishnan N, Hershberger RE, Chahal CAA, Landstrom AP, James C, McNally EM, Judge DP, van Tintelen P, Wilde A, Gollob M, Ingles J, Ware JS.
Josephs KS, et al.
Genome Med. 2023 Oct 23;15(1):86. doi: 10.1186/s13073-023-01246-8.
Genome Med. 2023.
PMID: 37872640
Free PMC article.
METHODS: We analyse evidence for inheritance patterns, allelic requirement, disease mechanism and disease-relevant variant classes for 65 ClinGen-curated ICC gene-disease pairs. ...RESULTS: For 36/65 gene-disease pairs, loss of function is not an established disease …
METHODS: We analyse evidence for inheritance patterns, allelic requirement, disease mechanism and disease-relevant variant cla …