ロード中...
Utility of whole‐exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care
An accurate diagnosis is an integral component of patient care for children with rare genetic disease. Recent advances in sequencing, in particular whole‐exome sequencing (WES), are identifying the genetic basis of disease for 25–40% of patients. The diagnostic rate is probably influenced by when in...
保存先:
| 出版年: | Clin Genet |
|---|---|
| 主要な著者: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Blackwell Publishing Ltd
2015
|
| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5053223/ https://ncbi.nlm.nih.gov/pubmed/26283276 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12654 |
| タグ: |
タグ追加
タグなし, このレコードへの初めてのタグを付けませんか!
|