ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.
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Deficient mismatch repair: Read all about it (Review)Massively parallel sequencing: the new frontier of hematologic genomicsGenomic assays for Epstein-Barr virus-positive gastric adenocarcinomaCombined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group StudyDetection of structural DNA variation from next generation sequencing data: a review of informatic approaches.Comparison of somatic mutation calling methods in amplicon and whole exome sequence data.Genetic testing strategies in newly diagnosed endometrial cancer patients aimed at reducing morbidity or mortality from lynch syndrome in the index case or her relativesComprehensive population-wide analysis of Lynch syndrome in Iceland reveals founder mutations in MSH6 and PMS2.Detection of gene rearrangements in targeted clinical next-generation sequencing.Panel-based testing for inherited colorectal cancer: a descriptive study of clinical testing performed by a US laboratory.Cytosine deamination is a major cause of baseline noise in next-generation sequencing.Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromesNext-generation sequencing of colorectal cancers in chinese: identification of a recurrent frame-shift and gain-of-function Indel mutation in the TFDP1 geneComplex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancerClinical problems of colorectal cancer and endometrial cancer cases with unknown cause of tumor mismatch repair deficiency (suspected Lynch syndrome)Utilization of multigene panels in hereditary cancer predisposition testing: analysis of more than 2,000 patientsNext-Generation Sequencing in Oncology: Genetic Diagnosis, Risk Prediction and Cancer Classification.Comparison of clinical targeted next-generation sequence data from formalin-fixed and fresh-frozen tissue specimens.Targeted re-sequencing identified rs3106189 at the 5' UTR of TAPBP and rs1052918 at the 3' UTR of TCF3 to be associated with the overall survival of colorectal cancer patients.Colon and endometrial cancers with mismatch repair deficiency can arise from somatic, rather than germline, mutations.Tumor genome analysis includes germline genome: are we ready for surprises?Performance of common analysis methods for detecting low-frequency single nucleotide variants in targeted next-generation sequence dataIntegrative analysis of hereditary nonpolyposis colorectal cancer: the contribution of allele-specific expression and other assays to diagnostic algorithms.Clinical validation of KRAS, BRAF, and EGFR mutation detection using next-generation sequencing.High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.Next-Generation Sequencing Panels for the Diagnosis of Colorectal Cancer and Polyposis Syndromes: A Cost-Effectiveness AnalysisBioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from PheochromocytomaComparison of targeted next-generation sequencing and Sanger sequencing for the detection of PIK3CA mutations in breast cancerDiagnostic Approach to Hereditary Colorectal Cancer Syndromes.Next-Generation Testing for Cancer Risk: Perceptions, Experiences, and Needs Among Early Adopters in Community Healthcare SettingsComprehensive detection of germline variants by MSK-IMPACT, a clinical diagnostic platform for solid tumor molecular oncology and concurrent cancer predisposition testing.DNA and RNA analyses in detection of genetic predisposition to cancer.Mutational profiling of colorectal cancers with microsatellite instability.Germ-line variants identified by next generation sequencing in a panel of estrogen and cancer associated genes correlate with poor clinical outcome in Lynch syndrome patientsDeep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis.Update on Lynch syndrome genomics.PGRNseq: a targeted capture sequencing panel for pharmacogenetic research and implementation.Variants of uncertain significance in BRCA testing: evaluation of surgical decisions, risk perception, and cancer distress.Germline deletions in the EPCAM gene as a cause of Lynch syndrome - literature reviewInherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.
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P2860
ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.
description
2012 nî lūn-bûn
@nan
2012年の論文
@ja
2012年学术文章
@wuu
2012年学术文章
@zh-cn
2012年学术文章
@zh-hans
2012年学术文章
@zh-my
2012年学术文章
@zh-sg
2012年學術文章
@yue
2012年學術文章
@zh
2012年學術文章
@zh-hant
name
ColoSeq provides comprehensive ...... massively parallel sequencing.
@ast
ColoSeq provides comprehensive ...... massively parallel sequencing.
@en
type
label
ColoSeq provides comprehensive ...... massively parallel sequencing.
@ast
ColoSeq provides comprehensive ...... massively parallel sequencing.
@en
prefLabel
ColoSeq provides comprehensive ...... massively parallel sequencing.
@ast
ColoSeq provides comprehensive ...... massively parallel sequencing.
@en
P2093
P2860
P50
P1476
ColoSeq provides comprehensive ...... massively parallel sequencing.
@en
P2093
Akiva P Novetsky
Anne M Thornton
Cassandra Gulden
Christina Smith
Colin C Pritchard
Elizabeth M Swisher
Jonathan F Tait
Ming K Lee
Paul J Goodfellow
Robin L Bennett
P2860
P304
P356
10.1016/J.JMOLDX.2012.03.002
P577
2012-05-30T00:00:00Z