Clinical Interpretation of Sequence Variants

• Published in: Current protocols in human genetics Vol. 106; no. 1; p. e98
• Main Authors: Zhang, Junyu, Yao, Yanyi, He, Haixian, Shen, Jun
• Format: Journal Article
• Language: English
• Published: United States 01.06.2020
• Subjects: Genetic Testing - methods; Genetic Variation; Genome, Human; Genomics - methods; High-Throughput Nucleotide Sequencing - methods; Humans; Information Dissemination; Sequence Analysis, DNA - methods; Software; ACMG/AMP recommendations; variant reevaluation; ClinGen; clinical genetic testing; sequence variant interpretation

Clinical interpretation of DNA sequence variants is a critical step in reporting clinical genetic testing results. Application of next-generation sequencing technology in molecular genetic testing has facilitated diagnoses of genetic disorders in clinical practice. However, the large number of DNA s...