Article
Biased pathogenic assertions of loss of function variants challenge molecular diagnosis of admixed individuals.
American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2021
Naslavsky Michel S, Scliar Marília O, Nunes Kelly, Wang Jaqueline Y T, Yamamoto Guilherme L, Guio Heinner, Tarazona-Santos Eduardo, Duarte Yeda A O, Passos-Bueno Maria Rita, Meyer Diogo, Zatz Mayana
Abstract excerpt
Diagnosis of individuals affected by monogenic disorders was significantly improved by next-generation sequencing targeting clinically relevant genes. Whole exomes yield a large number of variants that require several filtering steps, prioritization, and pathogenicity classification. Among the criteria recommended by ACMG, those that rely on population databases critically affect analyses of individuals with...
Topics
- Aged
- Brazil
- Exome
- Genetic Variation
- Genomics
- High-Throughput Nucleotide Sequencing
- Humans