Genome structural variation discovery and genotyping
Top Cited Papers
- 1 March 2011
- journal article
- review article
- Published by Springer Science and Business Media LLC in Nature Reviews Genetics
- Vol. 12 (5), 363-376
- https://doi.org/10.1038/nrg2958
Abstract
No abstract availableKeywords
This publication has 115 references indexed in Scilit:
- A Human Genome Structural Variation Sequencing Resource Reveals Insights into Mutational MechanismsCell, 2010
- Mosaic Uniparental Disomies and Aneuploidies as Large Structural Variants of the Human GenomeAmerican Journal of Human Genetics, 2010
- Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital AnomaliesAmerican Journal of Human Genetics, 2010
- Rare Deletions at 16p13.11 Predispose to a Diverse Spectrum of Sporadic Epilepsy SyndromesAmerican Journal of Human Genetics, 2010
- Origins and functional impact of copy number variation in the human genomeNature, 2009
- Population Analysis of Large Copy Number Variants and Hotspots of Human Genetic DiseaseAmerican Journal of Human Genetics, 2009
- The Fine-Scale and Complex Architecture of Human Copy-Number VariationAmerican Journal of Human Genetics, 2008
- The NCBI dbGaP database of genotypes and phenotypesNature Genetics, 2007
- High resolution oligonucleotide CGH using DNA from archived prostate tissueThe Prostate, 2007
- Shotgun sequence assembly and recent segmental duplications within the human genomeNature, 2004