Consensus on the application of clinical whole genome sequencing in the diagnosis of genetic diseases.
10.3760/cma.j.issn.0578-1310.2019.06.004
- VernacularTitle:全基因组测序在遗传病检测中的临床应用专家共识
- Author:
Society of Medical Geneticists, Chinese Medical Doctor Association
;
Subspecialty Group of Endocrindogic, Hereditary and Metabolic Diseases, the Society of Pedratrics, Chinese Medical Association
;
Clinical Genetics Group, Adolescent Medicine Committee, Chinese Medical Doctor Association
;
Molecular Diagnosis Society, Shanghai Medical Association
- Collective Name:Molecular Diagnosis Society, Shanghai Medical Association
- Publication Type:Journal Article
- MeSH:
Consensus;
Genetic Diseases, Inborn;
diagnosis;
genetics;
Genome, Human;
genetics;
High-Throughput Nucleotide Sequencing;
Humans;
Practice Guidelines as Topic;
Sequence Analysis, DNA;
Whole Genome Sequencing
- From:
Chinese Journal of Pediatrics
2019;57(6):419-423
- CountryChina
- Language:Chinese