未找到相关数据
Next-generation sequencing for identifying new genes in rare genetic diseases: many challenges and a pinch of luck
被引：1
作者：
Bonnefond, Amelie
[1
,2
,3
]
Froguel, Philippe
[1
,2
,3
,4
,5
]
机构：
[1] Lille Pasteur Inst, CNRS, UMR8199, F-59000 Lille, France
[2] Univ Lille 2, F-59000 Lille, France
[3] EGID, F-59000 Lille, France
[4] Univ London Imperial Coll Sci Technol & Med, Sch Publ Hlth, Dept Genom Common Dis, Hammersmith Hosp, London W12 0NN, England
[5] Qatar Fdn, QBRI, Doha, Qatar
基金：
英国医学研究理事会;
关键词：
Bioinformatics;
genome sequencing;
next-generation sequencing;
prioritization of variants;
rare disorder;
syndrome;
whole-exome sequencing;
D O I：
10.1186/gb-2013-14-7-309
中图分类号：
Q81 [生物工程学（生物技术）];
Q93 [微生物学];
学科分类号：
071005 ;
0836 ;
090102 ;
100705 ;
摘要：
A report on the European Society of Human Genetics conference, held in Paris, France, June 8-11, 2013.
引用
收藏
页数：2
相关论文