HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment Scheme.

摘要: The recommendations for the description of sequence variants from Human Genome Variation Society (HGVS) were published in 2000. Over years, became widely adopted, especially human clinical genetics and DNA laboratory reporting. As part a testing scheme performed by United Kingdom National External Quality Assessment Scheme (UK NEQAS) Molecular Genetics, we assessed current variability use interpretation guidelines diagnostic laboratories based across globe. Twenty-six participating gave 21 different descriptions. Six fully compliant HGVS descriptions, 12 reported correct variant, although not using recommended format, whilst eight reports (31%) correct. results indicate that available tools to check variant descriptions used. We conclude education appears be way forward eliminate observed data