Faculty of 1000 evaluation for Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the…

By C. Has. 2018

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Large-scale clinical interpretation of genetic variants using evolutionary data and deep learning (2020, methodology): “Combining EVE predictions with other sources of evidence for variant classification The 2015 American College of Medical Genetics and Genomics–Association for Molecular Pathology (ACMG-AMP) guidelines [12] present steps towards a systematic approach to variant classification which can be used consis”
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing (2016, unknown): “Synonymous and missense variants in large, variation-rich genes such as TTN are exceptionally challenging to interpret and are often filtered out in DNA sequencing pipelines (23, 24).”
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation (2021, unknown): “Variants can be classified as benign (B), likely benign (LB), of uncertain clinical significance (VUS), likely pathogenic (LP), or pathogenic (P).(33) This framework improves the interlaboratory consistency of classification and allows for reclassification of a variant once more data have become ava”