Exome sequencing deciphers rare diseases.
Cell
; 144(5): 635-7, 2011 Mar 04.
Article
en En
| MEDLINE
| ID: mdl-21376225
Two years ago, NIH's Undiagnosed Diseases Program began delivering genomics to the clinic on an unprecedented scale. Now, with 128 exomes sequenced and 39 rare diseases diagnosed, the program's success is paving the way for widespread personal genomics while pioneering new techniques for reigning in the "tsunami" of genomics data.
Texto completo:
1
Banco de datos:
MEDLINE
Asunto principal:
Genoma Humano
/
Exones
/
Análisis de Secuencia de ADN
/
Técnicas de Diagnóstico Molecular
/
Enfermedades Raras
Tipo de estudio:
Diagnostic_studies
Límite:
Humans
/
Male
País/Región como asunto:
America do norte
Idioma:
En
Revista:
Cell
Año:
2011
Tipo del documento:
Article