A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases
PediatriaSobre o estudo
- Desenho
- Metanálise
- Nível de evidência
- 1 · Evidência consolidada
- Revista
- Genetics in medicine : official journal of the American College of Medical Genetics
- Publicado em
- 25 fev 2025
- Citações
- 49
O resumo deste estudo é do publisher e não tem licença aberta: por isso mostramos aqui só os dados do estudo, e o texto fica na fonte original, nos links abaixo.
O estudo original
A meta-analysis of diagnostic yield and clinical utility of genome and exome sequencing in pediatric rare and undiagnosed genetic diseases
Rajshree Pandey, Noemi Fluetsch Brennan, Kalliopi Trachana, Sarah Katsandres, Olaf Bodamer, John Belmont, David L Veenstra, Siyang Peng
Descritores MeSH
- Undiagnosed Diseases
- Genetic Diseases, Inborn
- Rare Diseases
- Exome Sequencing
- Genome, Human
- Whole Genome Sequencing
- Exome
- Child
- Genetic Testing
- Humans
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