whole exome sequencing
Genetic Testing of Korean Familial Hypercholesterolemia Using Whole-Exome Sequencing
... Using Whole-Exome Sequencing Soo Min Han 1 , Byungjin Hwang 2 , Tae-gun Park 2 , Do-Il Kim 3 , Moo-Yong Rhee 4 , Byoung- Kwon Lee 5 , Young Keun Ahn 6 , Byung Ryul Cho 7 , Jeongtaek Woo 8 , Seung-Ho ...
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Identification of Candidate Gene Variants in Korean MODY Families by Whole-Exome Sequencing
... Subjects Six MODY probands and their family members with available blood samples were included for whole-exome sequencing. Five MODY subjects were selected using the following inclusion crite- ria: ...
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Identification of somatic mutations using whole-exome sequencing in Korean patients with acute myeloid leukemia
... Conclusions: Morphological AML subtypes may in part reflect subtype specific patterns of genomic alterations. Following validation, future studies to evaluate the usefulness of these genes in genetic testing for the ...
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Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing
... Whole exome sequencing is an attractive alternative to Sanger sequencing as it does not require predesigned specific primer sets for ...of whole exome se- quencing is expected to ...
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Whole Exome Sequencing in the Male Breast Cancer with Prolactinoma: A Case Report and Literature Review
... ABSTRACT Male breast cancer (MBC) is rare and accounts for approximately 1% of all breast cancer cases worldwide. Previous studies have suggested that several factors significantly increase the risk of MBC. Prolactinoma ...
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Identification of Maturity-Onset Diabetes of the Young Caused by Glucokinase Mutations Detected Using Whole-Exome Sequencing
... evaluated. Whole-exome sequencing was performed and the effects of the identified muta- tions were assessed using bioinformatics tools, such as PolyPhen-2, SIFT, and in silico ...
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identification of novel JAK3 mutations by whole exome sequencing in a korean boy with severe comined immunodeficiency
... Korea. Furthermore, the specific genetic defect underlying PID has not been identified in Korea, except in X-linked SCID. Early diagnosis of SCID is very important for improvement of the survival rate after stem cell ...
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Identification of a Novel Mutation of LAMB3 Gene in a Lybian Patient with Hereditary Epidermolysis Bullosa by Whole Exome Sequencing
... by Whole Exome Sequencing Nadia Laroussi, Olfa Messaoud, Mariem Chargui, Chaima Ben Fayala 1 , Abdelaziz Elahlafi 2 , Mourad Mokni 3 , Anu Bashamboo 4 , Kenneth McElreavey 4 , Mohamed Samir Boubaker ...
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Novel Pathogenic Variant (c.580C>T) in the CPS1 Gene in a Newborn With Carbamoyl Phosphate Synthetase 1 Deficiency Identified by Whole Exome Sequencing
... Diagnosis of the urea cycle disorder (USD) carbamoyl-phosphate synthetase 1 (CPS1) deficiency (CPS1D) based on only the measurements of biochemical intermediary metab- olites is not sufficient to properly exclude other ...
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Distal Myopathy with Rimmed Vacuoles Confirmed by Whole Exome Sequencing
... gov), the 1000 Genomes project database (http://www. 1000genomes.org/), and Exome Variant Server (http://evs. gs.washington.edu/EVS/) were examined. All variants pres- ent in reported myopathy genes were sorted. ...
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Genetic investigation of bisphosphonate-related osteonecrosis of jaw (BRONJ) via whole exome sequencing and bioinformatics
... Sanger Sequencing, genetic information on various species has been revealed throughout the ...on sequencing animals, plants and microorganisms all over the ...pursuing Whole genome sequencing ...
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Genetic investigation of bisphosphonate-related osteonecrosis of jaw (BRONJ) via whole exome sequencing and bioinformatics
... the exome, mutations in non-synonymous variants, splice sites, and coding indels can be identified, particularly by focusing on non-synonymous mutations in which changes in amino acids affect protein ...
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Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
... Distinct advantages and disadvantages accompany somatic mutation calling when utilizing captured WES or WGS. We found that ~70% of the discrepancies between whole genome and whole exome ...
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Identification of a Heterozygous Missense Mutation in Lethal Atelosteogenesis Type I by Exome Sequencing
... performed whole-exome sequencing in a female newborn hav- ing clinical features of ...Results: Exome sequencing identified a novel missense variant ...Sanger sequencing validated ...
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Exome Sequencing Reveals a Novel PRPS1 Mutation in a Family with CMTX5 without Optic Atrophy
... Discussion Whole-exome sequencing was used to identify a novel PRPS1 mutation in a family with CMTX with peripheral polyneu- ropathy and early-onset sensorineural hearing ...
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Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing
... next-generation sequencing has made it possible to selectively sequence only the protein-coding exons of the genome, a process termed ‘whole exome sequencing’ ...
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Analysis of Exome Sequencing in Hepatocellular Carcinoma
... from exome sequencing and the chromosomal region with high epigenetic modifications, the mutated genes in the region with high histone H3k09 trimethylation displayed enrichment in the G-protein coupled ...
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Diagnostic application of clinical exome sequencing in Leber congenital amaurosis
... clinical exome panel. With subsequent targeted panel sequencing with 113 genes associated with infantile nystagmus syndrome, a likely pathogenic allele in CEP290 was detected in one ...
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첨부파일 : Library construction techniques for pathogen whole genome sequencing
... pathogen whole genome sequencing Yang Hyo-Jin, Choi Hyun-Jung, Chai Hee-Youl, Kang Yeon-Ho* Division of Biosafety Evaluation and Control, KNIH, KCDC In molecular biology, libraries are widely used for ...
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Analysis of Whole Transcriptome Sequencing Data: Workflow and Software
... bias, sequencing depth, strand specificity, coverage uni- formity, and read distribution over the genome ...metrics, sequencing depth is importance, because it allows users to determine if current RNA-seq ...
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