Exome sequencing as a tool for Mendelian disease gene discovery
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Summary
Experimental and analytical approaches relating to exome sequencing have established a rich framework for discovering the genes underlying unsolved Mendelian disorders and set the stage for applying exome and whole-genome sequencing to facilitate clinical diagnosis and personalized disease-risk profiling.
- Type
- review
- Published
- 2011-11-01
- Cited by
- 1,755
- References
- 98
- OpenAlex
- https://openalex.org/W2061596350
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:15615317
Keywords
Exome sequencing, Exome, Biology, Mendelian inheritance, Computational biology
References
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- New therapeutic approaches to mendelian disorders.
- Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency
- Massively parallel sequencing of exons on the X chromosome identifies RBM10 as the gene that causes a syndromic form of cleft palate.
- Massively parallel exon capture and library-free resequencing across 16 individuals
- Confirmation by exome sequencing of the pathogenic role of NCSTN mutations in acne inversa (hidradenitis suppurativa).
- Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome.
- Whole exome sequencing identifies recessive WDR62 mutations in severe brain malformations
- Increased exonic de novo mutation rate in individuals with schizophrenia
- ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
Cited by
- Genome-wide Characterization of RNA Expression and Processing
- Exome and whole-genome sequencing as clinical tests: a transformative practice in molecular diagnostics.
- Takotsubo cardiomyopathy: overview.
- APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family
- A system for exact and approximate genetic linkage analysis of SNP data in large pedigrees
- Takotsubo cardiomyopathy: do the genetics matter?
- Attitudes of African Americans toward Return of Results from Exome and Whole Genome Sequencing
- Genetics and genomics for the prevention and treatment of cardiovascular disease: update: a scientific statement from the American Heart Association.
- Retinoblastoma gene mutations detected by whole exome sequencing of Merkel cell carcinoma
- Performance comparison of SNP detection tools with illumina exome sequencing data—an assessment using both family pedigree information and sample-matched SNP array data
- ContrastRank: a new method for ranking putative cancer driver genes and classification of tumor samples
- Translating rare-disease therapies into improved care for patients and families: what are the right outcomes, designs, and engagement approaches in health-systems research?
- Exome sequencing analysis: a guide to disease variant detection.
- Computational analysis of missense variants of G protein-coupled receptors involved in the neuroendocrine regulation of reproduction
- Clinical utility of next-generation sequencing for inherited bone marrow failure syndromes
- Exome Sequencing Identifies LOXL2 Mutation as a Cause of Familial Intracranial Aneurysm.
- The Barley HvWRKY6 Transcription Factor Is Required for Resistance Against Pyrenophora teres f. teres
- Identifying novel genes and genetic/phenotypic spectra for inherited neurodegenerative disorders using next-generation sequencing
- DNA Sequence Variants in Human Autoimmune Diseases
- A molecular and genetic analysis of otosclerosis
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