… vary widely in how DNA variants are further evaluated for suspicion … genetic testing laboratories
offering NGS testing for constitutional disorders are likely to encounter acquired variants …

Disclaimer: These ACMG Standards and Guidelines were developed primarily as an
educational resource for clinical laboratory geneticists to help them provide quality clinical …

… What will happen if machine knowledge acquisition is based on thousands of data retrieved
… to grow exponentially, as the capacity to acquire and analyze biomedical data speeds up. …

… Historically, genetic analysis of individuals with pure cutaneous mastocytosis (CM) and SM
… nucleotide variants and acquired pathogenic variants. The most prevalent pathogenic variant …

… ), many variants reported to influence HIV-1 acquisition have remained unconfirmed. … 22
variants previously reported to influence HIV-1 acquisition in this sample. All 22 of these variants …

… In many cases, the interpreting geneticist can assess the … results, the American College of
Medical Genetics (ACMG) has … These guidelines do not apply to CNVs representing acquired …

… To assist clinical laboratories in the classification and reporting of CNVs, irrespective of the
technology used to identify them, the American College of Medical Genetics and Genomics …

… In the following sections, we first describe the types of variants that are the focus of this
document and list traditional and emerging approaches for their detection in the clinical setting. …

… acquired genetic variants as a consequence of aging and the accumulation of variants …
We identified MUC4 as the most frequently mutated gene in all three individuals acquiring >…

… syndromes, genetic generalised epilepsy and non-acquired focal epilepsy, to search for
ultra-rare deleterious qualifying variants, and compared the qualifying variant rates found in …