[PDF] Top 20 Whole-exome sequencing to identify somatic mutations in
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Whole-exome sequencing to identify somatic mutations in
... for whole-exome sequencing (WES); Sanger sequencing was employed to confirm the somatic ...C>T mutations were the two most frequent transversions among the somatic ... See full document
13
Pitfalls of improperly procured adjacent non-neoplastic tissue for somatic mutation analysis using next-generation sequencing
... decreased somatic mutation detection ...using whole-exome sequencing (WES) followed by tar- geted amplicon sequencing ...novo mutations in the neoplastic tissue which ... See full document
10
Exome and deep sequencing of clinically aggressive neuroblastoma reveal somatic mutations that affect key pathways involved in cancer progression
... of somatic mutations was in substantial agreement with previous studies [8-10] (Supplementary Table ...silent somatic changes (median per sample: 17) (Figure 1A and 1B and Supplementary Table ...A ... See full document
13
Somatic mutation landscape of a meningioma and its pulmonary metastasis
... Next-generation sequencing techniques have enabled characterization of the genomic landscape of primary meningiomas, including the discovery of several driver mutations in genes including NF2, TRAF7, KLF4, ... See full document
7
3D clusters of somatic mutations in cancer reveal numerous rare mutations as functional targets
... hgLiftOver). Mutations were annotated based on Ensembl release 75, and the mutational effect was anno- tated on canonical isoforms per gene defined by UniProt canonical sequences ...as somatic ... See full document
14
Original Article SPOP mutation in prostate cancers in Korean population: variation in its mutation frequency among ethnic groups
... in exome sequencing of prostate cancer (Pca) in western ...Sanger sequencing to analyze SPOP somatic mutations in paraffin-embedded ...missense mutations, ...missense ... See full document
6
Whole-exome sequencing and genome-wide methylation analyses identify novel disease associated mutations and methylation patterns in idiopathic hypereosinophilic syndrome
... Infinium probes that failed in any of the samples or showed a detection p > 0.05 over the background signal were excluded from the analysis. Further, probes containing a single nucleotide polymorphism (SNP) or ... See full document
10
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 ... See full document
6
Whole-Exome/Genome Sequencing and Genomics
... to identify microdeletions and microduplications that were of unknown signi fi ...with mutations in other genes and/or speci fi c environmental in fl ... See full document
7
Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation
... DNA was extracted from peripheral blood of patients and their parents using the DNeasy Blood &Tissue Kit (Cat no. 69506, QIAGEN, GmBH, Germany), following the manufacturer’ s instructions. Qubit 2.0 Fluorometer (Cat ... See full document
10
Case Report Whole-exome sequencing identify mutations in DNAH5 in a Chinese Han patient with primary ciliary dyskinesia: a case report
... performed whole-exome se- quencing to identify pathogenetic mutations in a patient diagnosis with PCD from a non-con- sanguineous Chinese Han ...family. Whole-exome ... See full document
5
Frequent DPH3 promoter mutations in skin cancers
... associated somatic mutations within regulatory elements of the ...initial exome sequencing of 21 melanomas, we report frequent somatic mutations in skin cancers in a ... See full document
9
<p>Sequential Whole Exome Sequencing Reveals Somatic Mutations Associated with Platinum Response in NSCLC</p>
... To better understand the role of somatic mutations in platinum response, we performed mutational signature analysis based on all SNVs of matched pre- and post- chemotherapy samples. Similar to the SNV ... See full document
12
Cost effective assay choice for rare disease study designs
... Generation Sequencing (NGS) have opened up new approaches for investigating the genetic aetiology of heritable ...is whole genome or whole exome sequencing (WGS/WES) of affected ... See full document
8
Targeted or whole genome sequencing of formalin fixed tissue samples: potential applications in cancer genomics
... Performing sequencing analyses using DNA isolated from FFPE samples is technically ...targeted sequencing of single genes [16, 17], as well as the whole exome [18–20] and whole genome ... See full document
19
Differences in somatic mutation landscape of hepatocellular carcinoma in Asian American and European American populations
... point mutations and it would be interesting to extend the analyses to other genetic abnormalities, such as copy number ...on whole-exome sequencing data, mutations in the TERT promoter ... See full document
9
Sequencing of breast cancer stem cell populations indicates a dynamic conversion between differentiation states in vivo
... With exome sequencing, we detected on average 99 somatic mutations in the exome of the bulk primary tumor cells and 98 mutations in the CSCs of the 10 patients, which is in line ... See full document
7
Somatic mutations in renal cell carcinomas from Chinese patients revealed by whole exome sequencing
... nonsynonymous somatic variants in exons and 86 mutations at splice junctions were ...in somatic missense mutations was T:A > A:T, which was different from that recorded in the COSMIC ...the ... See full document
12
Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson disease
... CSMD1 mutations were predicted highly patho- genic by various computational ...CSMD1 mutations in 372 control chromosomes, including 188 ethnicity-matched control chromosomes, and did not identify ... See full document
7
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy
... NHLBI Exome Variant Server, OMIM, PubMed, and ClinVar were used to evaluate genes and sequence changes of interest ...by whole genome or exon-focused oligonucleotide array-based comparative genomic ... See full document
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