When excluding criteria used by less than four laboratories (<10%), the average concordance rate was 46%. Taken together, ABC-based classification is more clear-cut than ACMG-based classification since molecular and clinical information is handled separately, and variant reporting can be adapted to...
two sets of criteria: one for classification of pathogenic or likely pathogenic variants and one for classification of benign or likely benign variants (Table 4). Each pathogenic criterion is weighted as very strong (PVS1), strong (PS1-4); moderate (PM1-6), or supporting (PP1-5), and ea...
ORIGINAL RESEARCH ARTICLEOfficial journal of the American College of Medical Genetics and Genomics Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria Keith Nykamp, PhD1, Michael Anderson, PhD1, Martin Powers, MD1, John Garcia, PhD1, Blanca Herrera, PhD1, Yuan-Yuan...
1. **Classification System:** The guidelines establish a standardized classification system for variants, categorizing them into five distinct classes (pathogenic, likely pathogenic, uncertain significance, likely benign, and benign), based on specific criteria such as population frequency, functional studi...
我会基于中文版ACMG指南,参考InterVar文章和源码,较为详细的解读每一个证据(flag是立下来了,督促自己!),然后尽量重构Intervar。最后参考Sherloc: a comprehensive refinement of the ACMG–AMP variant classification criteria(基于指南的分析框架,让指南更便于实现)进行调整。
PurposeWe evaluated the American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) variant pathogenicity guidelines for internal consistency and compatibility with Bayesian statistical reasoning.MethodsThe ACMG/AMP criteria were translated into a naive Bayesian classifier,...
1. **Classification System:** The guidelines establish a standardized classification system for variants, categorizing them into five distinct classes (pathogenic, likely pathogenic, uncertain significance, likely benign, and benign), based on specific criteria such as population frequency, functional ...
Proposedcriteriafortheevaluationofconstitutionalcopynumbervariants 7 Thesestandardsbuilduponthepreviousversionbyintroducingasemiquantitative point-basedscoringmetricforCNVclassification.Owingtothedistinctpropertiesandinherent differencesbetweencopy-numberlossesandcopynumbergains,separatescoringmetricswere developedforeach(Tables1...
The following is provided to more thoroughly explain certain concepts noted in the criteria for variant classification (Tables 3 and 4) and to provide examples and/or caveats or pitfalls in their use. This section should be read in concert with Tables 3 and 4. 下面提供更彻底地解释在变异分类...
[5,6,7,8,9,10,11,12,13,14] or specific variant types [15]. In addition, a comprehensive refinement of the ACMG variant classification criteria in terms of 40,000 clinically observed variants has also been made [16]. However, in our view, none of these provide a general framework ...