ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing. - Wikidata - wikimedia - TriplyDB

ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.

ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.

http://www.wikidata.org/entity/Q36081155

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Deficient mismatch repair: Read all about it (Review)Massively parallel sequencing: the new frontier of hematologic genomics Genomic assays for Epstein-Barr virus-positive gastric adenocarcinoma Combined Microsatellite Instability, MLH1 Methylation Analysis, and Immunohistochemistry for Lynch Syndrome Screening in Endometrial Cancers From GOG210: An NRG Oncology and Gynecologic Oncology Group Study Detection 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 relatives Comprehensive 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 syndromes Next-generation sequencing of colorectal cancers in chinese: identification of a recurrent frame-shift and gain-of-function Indel mutation in the TFDP1 gene Complex MSH2 and MSH6 mutations in hypermutated microsatellite unstable advanced prostate cancer Clinical 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 patients Next-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 data Integrative 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 Analysis Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from Pheochromocytoma Comparison of targeted next-generation sequencing and Sanger sequencing for the detection of PIK3CA mutations in breast cancer Diagnostic Approach to Hereditary Colorectal Cancer Syndromes.Next-Generation Testing for Cancer Risk: Perceptions, Experiences, and Needs Among Early Adopters in Community Healthcare Settings Comprehensive 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 patients Deep 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 review Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

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ColoSeq provides comprehensive lynch and polyposis syndrome mutational analysis using massively parallel sequencing.

http://www.wikidata.org/entity/Q36081155

description

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ColoSeq provides comprehensive ...... massively parallel sequencing.

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ColoSeq provides comprehensive ...... massively parallel sequencing.

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ColoSeq provides comprehensive ...... massively parallel sequencing.

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ColoSeq provides comprehensive ...... massively parallel sequencing.

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ColoSeq provides comprehensive ...... massively parallel sequencing.

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J.JMOLDX.2012.03.002

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The Journal of Molecular Diagnostics

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ColoSeq provides comprehensive ...... massively parallel sequencing.

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Akiva P Novetsky

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Anne M Thornton

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Cassandra Gulden

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Christina Smith

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Colin C Pritchard

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Jonathan F Tait

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Paul J Goodfellow

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Robin L Bennett

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P2860

Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing

Mapping short DNA sequencing reads and calling variants using mapping quality scores

A second generation human haplotype map of over 3.1 million SNPs

A method and server for predicting damaging missense mutations

Hereditary and familial colon cancer

Predicting phenotypic severity of uncertain gene variants in the RET proto-oncogene

Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

Distribution and intensity of constraint in mammalian genomic sequence

MutationTaster evaluates disease-causing potential of sequence alterations

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357-366

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10.1016/J.JMOLDX.2012.03.002

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Mary-Claire King

Olufunmilayo Olopade

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2012-05-30T00:00:00Z

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225094313

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22658618

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3391416

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