Determination of the clinical significance of an unclassified variant.
After completion of Human Genome Project (HGP) in 2003, as well as the new technology development in genomic research, the most accurate genetics blueprint of human is available. Researchers started to dissect and understand the genetic map of the human species. As a consequence, analyses of novel or unclassified genetic variations become increasingly important in translational medicine. One of the medical specialties in modern medicine is clinical genetics, which is overseen by the American Board of Medical Genetics (ABMG). In 2008, ABMG published a guideline for interpretation of new variants using ACMG Standards and Guidelines (Richards et al. Genet Med 10:294-300, 2008). In this chapter, we provide updated procedures of evaluating different databases, computational tools, and structural analysis methods that we currently utilize to assist in clinical interpretation.
Mitochondrial Diagnostic Laboratory, Medical Genetics Laboratories, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. wzhang2@bcm.edu
Victor Wei
VW
Zhang
Jing
J
Wang
D000595:Amino Acid Sequence; D000818:Animals; D019295:Computational Biology / Q000379:methods*; D004272:DNA, Mitochondrial / Q000235:genetics; D030541:Databases, Genetic; D005091:Exons / Q000235:genetics; D020440:Gene Duplication / Q000235:genetics; D014644:Genetic Variation / Q000235:genetics*; D005826:Genetics, Medical / Q000379:methods*; D015894:Genome, Human / Q000235:genetics; D016045:Human Genome Project; D006801:Humans; D007438:Introns / Q000235:genetics; D051379:Mice; D008969:Molecular Sequence Data; D020125:Mutation, Missense / Q000235:genetics; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D017384:Sequence Deletion / Q000235:genetics
D004272:DNA, Mitochondrial