Rapid gene identification in a Chinese osteopetrosis family by whole exome sequencing
Authors:
- Minglin OuMOMinglin Ou
- Jinlong LiangJLJinlong Liang
- Min DingMDMin Ding
- Jiejing ChenJCJiejing Chen
- Wei LiuWLWei Liu
- Ruo XiaoRXRuo Xiao
- Xiaohua MengXMXiaohua Meng
- Lijuan WangLWLijuan Wang
- Xiaohua PanXPXiaohua Pan
- Peng ZhuPZPeng Zhu
- Wen XueWXWen Xue
Abstract
No abstract availableKeywords
This publication has 29 references indexed in Scilit:
- Exome Sequencing of Head and Neck Squamous Cell Carcinoma Reveals Inactivating Mutations in NOTCH1Science, 2011
- Exome Sequencing Identifies ZNF644 Mutations in High MyopiaPLOS Genetics, 2011
- Nosology and classification of genetic skeletal disorders: 2010 revisionAmerican Journal of Medical Genetics Part A, 2011
- Whole-Exome Sequencing Links a Variant in DHDDS to Retinitis PigmentosaThe American Journal of Human Genetics, 2011
- Exome sequencing allows for rapid gene identification in a Charcot‐Marie‐Tooth familyAnnals of Neurology, 2011
- Fast and accurate long-read alignment with Burrows–Wheeler transformBioinformatics, 2010
- Genetic diagnosis by whole exome capture and massively parallel DNA sequencingProceedings of the National Academy of Sciences, 2009
- SOAP2: an improved ultrafast tool for short read alignmentBioinformatics, 2009
- OsteopetrosisOrphanet Journal of Rare Diseases, 2009
- The Cl-/H+ antiporter ClC-7 is the primary chloride permeation pathway in lysosomesNature, 2008