exome sequencing
A comparison of whole genome sequencing with exome sequencing for family based association studies
... Nevertheless, exome sequencing also has several intrinsic ...capability, exome sequencing might introduce bias as a result of fragment size and GC content, which could result in ambiguous ...
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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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Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders
... Next-generation Exome Sequencing (NCGENES) study, which aims to evaluate the use of exome sequencing as a diagnostic tool in a broad array of diseases, we evaluated the diagnostic yield of ...
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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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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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Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient
... We performed exome sequencing on a Japanese woman born to consanguineous parents who were first cousins (Figure 1A). The 37-year-old woman noticed dysarthria at age 31. She exhibited brisk tendon reflex, ...
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Whole exome sequencing of adenoid cystic carcinoma
... Adenoid cystic carcinoma (ACC) is a rare malignancy that can occur in multiple organ sites and is primarily found in the salivary gland. While the identification of recurrent fusions of the MYB-NFIB genes have begun to ...
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Exome Sequencing of Sporadic GH-Secreting Pituitary Adenomas
... Whole-Exome sequencing, for spectrum of genetic alteration, was performed on 7 set of sporadic GHomas DNA and corresponding blood samples to identify a total of 2,197 high quality SNVs and tumor-specific ...
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Whole-Exome Sequencing in Nine Monozygotic Discordant Twins
... Whole Exome Sequencing (WES) and Data Analysis Exonic and adjacent intronic sequences were enriched from genomic DNA using the NimbleGen SeqCap EZ Human Ex- ome Library ...
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SNES: single nucleus exome sequencing
... nucleus exome sequencing (SNES) that builds upon our previous ...(MDA), exome capture, and next-generation sequen- cing (NGS) to generate high coverage (96%) data for the accurate detection of point ...
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Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders
... use exome sequencing followed by bioinformatics selection of genes of interest, the clinical geneticists continuously reevaluate and update the gene ...
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Explorations to improve the completeness of exome sequencing
... Intramural Sequencing center (NISC) on a HiSeq2000 sequencer (Illumina) using 101-bp paired-end ...EZ Exome plus UTR Lib capture kit (Nim- blegen) and sequenced at NISC on a HiSeq2500 (Illu- mina) using ...
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A dual targeted ?? defensin and exome sequencing approach to identify, validate and functionally characterise genes associated with bull fertility
... Bovine fertility remains a critical issue underpinning the sustainability of the agricultural sector. Phenotypic records collected on >7,000 bulls used in artificial insemination (AI) were used to identify 160 ...
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Exome sequencing identified new mutations in a Marfan syndrome family
... Exome sequencing was performed by using the SureSelect Human All Exon 50 Mb Kit (Agilent, Santa ...the exome capture array to capture fragments in target ...paired-end sequencing on the ...
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TCOF1 pathogenic variants identified by Whole-exome sequencing in Chinese Treacher Collins syndrome families and hearing rehabilitation effect
... Sanger sequencing of these three known pathogenic genes, a method that is now the recommended first-tier test for ...generation sequencing (NGS) technology, the cost of Whole-exome sequencing ...
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Exome sequencing reveals a potential mutational trajectory and treatments for a specific pancreatic cancer patient
... and exome sequencing performed (a single sample of each). Exome sequencing revealed a germ line mutation in BRCA2 and six somatic mutations between the cancer and normal ...
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Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users’ views
... sequencing coverage, read length, accurate detection of insertion-deletions, and reduction of false positive and false negative rates), numerous hurdles have to be overcome to use WES in routine healthcare. A ...
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The evolution of combined molecular targeted therapies to advance the therapeutic efficacy in melanoma: a highlight of vemurafenib and cobimetinib
... whole-exome sequencing and whole-transcriptome sequencing (RNA-seq) on tumor samples from five patients with acquired resistance to combined dabrafenib and tram- etinib therapy demonstrated that some ...
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Germline mutations in the oncogene EZH2 cause Weaver syndrome and increased human height
... undertaken exome sequencing and sanger sequencing to identify the cause of Weaver syndrome and to characterise the molecular and clinical associations of the causative ...
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A protocol for the identification and validation of novel genetic causes of kidney disease
... parallel sequencing (MPS) from ap- proximately 2005 [14] has arguably been the next greatest advance since the development of Sanger sequencing in the late 1970s [15, ...generation sequencing (NGS) ...
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