Next generation massively parallel sequencing of targeted exomes to identify genetic mutations in primary ciliary dyskinesia: Implications for application to clinical testing
Open Access
- 1 March 2011
- journal article
- research article
- Published by Elsevier in Genetics in Medicine
- Vol. 13 (3) , 218-229
- https://doi.org/10.1097/gim.0b013e318203cff2
Abstract
No abstract availableKeywords
This publication has 38 references indexed in Scilit:
- Next generation sequencing in research and diagnostics of ocular birth defectsMolecular Genetics and Metabolism, 2010
- Clinical assessment incorporating a personal genomePublished by Elsevier ,2010
- Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth NeuropathyNew England Journal of Medicine, 2010
- Deletions and Point Mutations of LRRC50 Cause Primary Ciliary Dyskinesia Due to Dynein Arm DefectsAmerican Journal of Human Genetics, 2009
- Exome sequencing identifies the cause of a mendelian disorderNature Genetics, 2009
- Targeted capture and massively parallel sequencing of 12 human exomesNature, 2009
- Massively Parallel Sequencing: The Next Big Thing in Genetic MedicinePublished by Elsevier ,2009
- Mutations in Radial Spoke Head Protein Genes RSPH9 and RSPH4A Cause Primary Ciliary Dyskinesia with Central-Microtubular-Pair AbnormalitiesAmerican Journal of Human Genetics, 2009
- The Genome Sequencer FLX™ System—Longer reads, more applications, straight forward bioinformatics and more complete data setsJournal of Biotechnology, 2008
- The complete genome of an individual by massively parallel DNA sequencingNature, 2008