Expanding ACMG variant classification guidelines into a general framework

[1] Richards S(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology Genet Med 17 405-424

[2] Aziz N(2016)Quantifying prion disease penetrance using large population control cohorts Sci Transl Med. 8 322ra9-286

[3] Bale S(2019)Assessing the pathogenicity, penetrance, and expressivity of putative disease-causing variants in a population setting Am J Hum Genet 104 275-43

[4] Bick D(2022)The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort Genet Med. 24 736-359

[5] Das S(2018)Adaptation and validation of the ACMG/AMP variant classification framework for Genet Med 20 351-1096

[6] Gastier-Foster J(2020)-associated inherited cardiomyopathies: recommendations by ClinGen’s inherited cardiomyopathy expert panel Circ Genom Precis Med 13 e002480-1367

[7] Minikel EV(2022)Variant interpretation for dilated cardiomyopathy: refinement of the American college of medical genetics and genomics/ClinGen guidelines for the DCM precision medicine study Hum Mutat 43 1089-1562

[8] Vallabh SM(2021)Adapting the ACMG/AMP variant classification framework: a perspective from the ClinGen hemoglobinopathy variant curation expert panel Clin Res Hepatol Gastroenterol 45 101497-1568

[9] Lek M(2020)Clinical interpretation of Pancreatology 20 1354-1592

[10] Estrada K(2020) variants in patients with pancreatitis Hum Mutat 41 1555-1613

[1] Richards S(2015)Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American college of medical genetics and genomics and the association for molecular pathology Genet Med 17 405-424

[2] Aziz N(2016)Quantifying prion disease penetrance using large population control cohorts Sci Transl Med. 8 322ra9-286

[3] Bale S(2019)Assessing the pathogenicity, penetrance, and expressivity of putative disease-causing variants in a population setting Am J Hum Genet 104 275-43

[4] Bick D(2022)The ACMG SF v3.0 gene list increases returnable variant detection by 22% when compared with v2.0 in the ClinSeq cohort Genet Med. 24 736-359

[5] Das S(2018)Adaptation and validation of the ACMG/AMP variant classification framework for Genet Med 20 351-1096

[6] Gastier-Foster J(2020)-associated inherited cardiomyopathies: recommendations by ClinGen’s inherited cardiomyopathy expert panel Circ Genom Precis Med 13 e002480-1367

[7] Minikel EV(2022)Variant interpretation for dilated cardiomyopathy: refinement of the American college of medical genetics and genomics/ClinGen guidelines for the DCM precision medicine study Hum Mutat 43 1089-1562

[8] Vallabh SM(2021)Adapting the ACMG/AMP variant classification framework: a perspective from the ClinGen hemoglobinopathy variant curation expert panel Clin Res Hepatol Gastroenterol 45 101497-1568

[9] Lek M(2020)Clinical interpretation of Pancreatology 20 1354-1592

[10] Estrada K(2020) variants in patients with pancreatitis Hum Mutat 41 1555-1613