Targeted Capture and Massively Parallel Sequencing of Twelve Human Exomes
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Summary
It is shown that candidate genes for Mendelian disorders can be identified by exome sequencing of a small number of unrelated, affected individuals, and may be extendable to diseases with more complex genetics through larger sample sizes and appropriate weighting of non-synonymous variants by predicted functional impact.
- Type
- article
- Published
- 2009-08-16
- Cited by
- 1,828
- References
- 37
- Access
- Open access
- OpenAlex
- https://openalex.org/W1973878786
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:26586878
Keywords
Exome sequencing, Massive parallel sequencing, Exome, Biology, Genetics
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- 1000 Genomes Project
- Genetic Variation in an Individual Human Exome
Cited by
- Animal models of disc degeneration and major genetic strategies.
- Genome-wide Characterization of RNA Expression and Processing
- SNP discovery in non-model organisms using 454 next generation sequencing.
- The Role of Protein Structural Analysis in the Next Generation Sequencing Era
- Multiple gene dysfunctions lead to high cancer-susceptibility: evidences from a whole-exome sequencing study.
- Designing, performing, and interpreting a microarray-based gene expression study.
- Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.
- Mitochondrial Translation and Beyond: Processes Implicated in Combined Oxidative Phosphorylation Deficiencies
- Targeted Exon Sequencing by In‐Solution Hybrid Selection
- BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.
- Characterising and Predicting Haploinsufficiency in the Human Genome
- Targeted massively parallel sequencing of maternal plasma DNA permits efficient and unbiased detection of fetal alleles.
- Neonatal cardiomyopathies and metabolic crises due to oxidative phosphorylation defects.
- Personal account of the discovery of a new disease using next-generation sequencing. Interview by Natalie Harrison.
- Application of Whole Exome Sequencing to Identify Disease-Causing Variants in Inherited Human Diseases
- Genetics and genomics for the prevention and treatment of cardiovascular disease: update: a scientific statement from the American Heart Association.
- HUGO: Hierarchical mUlti-reference Genome cOmpression for aligned reads
- Preleukemic mutations in human acute myeloid leukemia affect epigenetic regulators and persist in remission
- Whole exome sequencing implicates PTCH1 and COL17A1 genes in ossification of the posterior longitudinal ligament of the cervical spine in Chinese patients.
- Exome sequencing analysis: a guide to disease variant detection.
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