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Case-level data sharing makes a difference in variant classification
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Resumo(s)
The American College of Medical Genetics and
Genomics guidelines for variant classification are
composed of several evidence criteria that, when
combined, lead to a 5-tier pathogenicity variant
classification. Several criteria rely on case-level
data from patients, relatives, or controls with
or without a particular variant of interest. (...)
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Familial Hypercholesterolemia Doenças Cardio e Cérebro-vasculares