ロード中...
OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization
Motivation: Exome sequencing has become a de facto standard method for Mendelian disease gene discovery in recent years, yet identifying disease-causing mutations among thousands of candidate variants remains a non-trivial task. Results: Here we describe a new variant prioritization tool, OVA (ontol...
保存先:
| 出版年: | Bioinformatics |
|---|---|
| 主要な著者: | , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
Oxford University Press
2015
|
| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4653395/ https://ncbi.nlm.nih.gov/pubmed/26272982 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/bioinformatics/btv473 |
| 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!
|