whole exome sequencing
Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation
... Methods: Whole-exome sequencing was performed to screen MECP2 and other ASD candidate genes for 120 patients diagnosed with ASD. The parents of patients who were identified with MECP2 mutation were ...
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A protocol for whole-exome sequencing in newborns with congenital deafness: a prospective population-based cohort
... process. Whole-exome sequencing (WES) allows simultaneous and rapid analysis of human genes, there- fore detection of all exome tractable mutations in genes known to be associated with ...
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Whole Exome Sequencing for Mutation Screening in Hemophagocytic Lymphohistiocytosis
... DNA sequencing methods such as Sanger sequencing (11) for molecular characterization of affected patients, which involves many genes, is a time-consuming and expensive ...generation sequencing (NGS) ...
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Whole-exome sequencing in amyotrophic lateral sclerosis suggests NEK1 is a risk gene in Chinese
... Whole-exome sequencing (WES) studies designed to identify genes enriched for rare variants have been con- ducted for ALS. Association testing has typically been conducted at the gene level comparing ...
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Whole-Exome Sequencing in Nine Monozygotic Discordant Twins
... performed whole-exome sequencing (WES) in nine discordant MZ twins to identify somatic mutational events in the affected twin that might exert a dominant negative ...Sanger sequencing of the ...
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A new tool for prioritization of sequence variants from whole exome sequencing data
... Rapid developments in high throughput sequence cap- ture methods as well as in next generation sequencing (NGS) approaches have made whole exome sequencing (WES) both technically feasible and ...
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Rapid identification of kidney cyst mutations by whole exome sequencing in zebrafish
... in sequencing costs prompted the development of whole genome and RNA sequencing approaches for gene ...a whole exome sequencing (WES) approach that allows rapid and cost- ...
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Next-generation whole-exome sequencing contribution to identification of rare autosomal recessive diseases
... generation whole-exome sequencing (WES) opened a new page in Mendelian dis- ease gene discovery – enabling to study autosomal recessive diseases in a new ...
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Ethical and legal implications of whole genome and whole exome sequencing in African populations
... generation sequencing (NGS) methods in re- cent years has changed the scope of human genomic ...perform whole genome sequencing (WGS) and whole exome sequencing (WES) studies, ...
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Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech
... next-generation sequencing in larger-scale genetic studies of simplex cases of CAS and possibly other motor speech ...clinical exome sequencing currently costs less than $5,000 per patient, the cost ...
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Whole exome sequencing in three families segregating a pediatric case of sarcoidosis
... Background: Sarcoidosis (OMIM 181000) is a multi-systemic granulomatous disorder of unknown origin. Despite multiple genome-wide association (GWAS) studies, no major pathogenic pathways have been identified to date. To ...
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Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders
... EVS: Exome Variant Server; FPKM: fragments per kilobase of transcript per million mapped reads; GATK: Genome Analysis Toolkit; IGV: Integrative Genome Viewer; ISSX: X-linked infantile spasm syndrome; LoF: loss of ...
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Cancer risk prediction with whole exome sequencing and machine learning
... Accurate cancer risk and survival time prediction are important problems in personalized medicine, where disease diagnosis and prognosis are tuned to individuals based on their genetic material. Cancer risk prediction ...
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Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant
... next-generation sequencing (NGS) technology and the decrease in costs for whole-exome sequencing (WES) and whole-genome sequening (WGS), has prompted its clinical application in several ...
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Congenital Heart Disease Gene Identification by Whole Exome Sequencing
... In this family, there was also a variant in the gene RREB1 remaining following filtering. This was a missense variant and, although in silico pathogenicity predictors did not support pathogenicity, there was a moderately ...
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Whole-exome sequencing enhances prognostic classification of myeloid malignancies
... routine whole-exome sequencing on patients is currently prohibitively expensive for most centers, precipitous cost decreases will make such sequencing feasible in the near future ...
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Whole-exome sequencing identifies ADRA2A mutation in atypical familial partial lipodystrophy
... recently, whole-exome sequencing has been suc- cessful in elucidating causal genes for extremely rare subtypes of lipodystrophies, especially those due to de novo heterozygous variants ...and ...
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Incidental Medical Information in Whole-Exome Sequencing
... We extracted DNA from peripheral blood samples. Con fi rmation of mutations that met criteria for return was undertaken through Clinical Laboratory Improvement Amendment, 1988 (CLIA)-approved labo- ratories, either ...
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Whole exome sequencing reveals novel somatic alterations in neuroblastoma patients with chemotherapy
... by whole exome ...blood whole exome sequencing demonstrated that several novel somatic mutations were identified in all three trios comply or against the trendy of tumor size ...
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Whole-exome sequencing to identify somatic mutations in
... Peritoneal metastasis occurs in more than half of patients with unresectable or recurrent gastric cancer and is associated with the worst prognosis. The associated genomic events and pathogenesis remain ambiguous. The ...
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