Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.
about
New challenges for BRCA testing: a view from the diagnostic laboratoryNavigating the rapids: the development of regulated next-generation sequencing-based clinical trial assays and companion diagnosticsStreamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a modelICO amplicon NGS data analysis: a Web tool for variant detection in common high-risk hereditary cancer genes analyzed by amplicon GS Junior next-generation sequencing.Validation of multiple single nucleotide variation calls by additional exome analysis with a semiconductor sequencer to supplement data of whole-genome sequencing of a human population.Improved Efficiency and Reliability of NGS Amplicon Sequencing Data Analysis for Genetic Diagnostic Procedures Using AGSA Software.Next-generation sequencing of BRCA1/2 in breast cancer patients: potential effects on clinical decision-making using rapid, high-accuracy genetic results.Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology.Genetic testing in hereditary breast and ovarian cancer using massive parallel sequencingFunctional and structural analysis of C-terminal BRCA1 missense variants.Performance evaluation of Sanger sequencing for the diagnosis of primary hyperoxaluria and comparison with targeted next generation sequencingClinical validation of KRAS, BRAF, and EGFR mutation detection using next-generation sequencing.Low-level constitutional mosaicism of a de novoBRCA1 gene mutation.Large genomic rearrangements of BRCA1 and BRCA2 among patients referred for genetic analysis in Galicia (NW Spain): delimitation and mechanism of three novel BRCA1 rearrangements.A reliable method for the detection of BRCA1 and BRCA2 mutations in fixed tumour tissue utilising multiplex PCR-based targeted next generation sequencingNew recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencingValidation of an NGS Approach for Diagnostic BRCA1/BRCA2 Mutation Testing.Predictive Factors for BRCA1 and BRCA2 Genetic Testing in an Asian Clinic-Based Population.Bioinformatic Challenges in Clinical Diagnostic Application of Targeted Next Generation Sequencing: Experience from PheochromocytomaHigh-Throughput Amplicon-Based Copy Number Detection of 11 Genes in Formalin-Fixed Paraffin-Embedded Ovarian Tumour Samples by MLPA-Seq.BRCA1-2 diagnostic workflow from next-generation sequencing technologies to variant identification and final report.A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscapeConstruction of a multiplex mutation hot spot PCR panel: the first step towards colorectal cancer genotyping on the GS Junior platformUpfront molecular testing in patients with advanced gastro-esophageal cancer: Is it time yet?Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.Novel BRCA1 and BRCA2 Tumor Test as Basis for Treatment Decisions and Referral for Genetic Counselling of Patients with Ovarian Carcinomas.The reliable assurance of detecting somatic mutations in cancer-related genes by next-generation sequencing: the results of external quality assessment in China.Simultaneous detection of BRCA mutations and large genomic rearrangements in germline DNA and FFPE tumor samples.A massive parallel sequencing workflow for diagnostic genetic testing of mismatch repair genes.Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.Massive parallel sequencing in sarcoma pathobiology: state of the art and perspectives.Comparison of Ion Personal Genome Machine Platforms for the Detection of Variants in BRCA1 and BRCA2.High-resolution melting (HRM) assay for the detection of recurrent BRCA1/BRCA2 germline mutations in Tunisian breast/ovarian cancer families.Detection of BRCA1 gross rearrangements by droplet digital PCR.HBOC multi-gene panel testing: comparison of two sequencing centers.Performance of multiplicom's BRCA MASTR Dx kit on the detection of BRCA1 and BRCA2 mutations in fresh frozen ovarian and breast tumor samplesTargeted next-generation sequencing panels for monogenetic disorders in clinical diagnostics: the opportunities and challenges.Evaluation of an amplicon-based next-generation sequencing panel for detection of BRCA1 and BRCA2 genetic variants.Identification and Characterization of a New BRCA2 Rearrangement in an Italian Family with Hereditary Breast and Ovarian Cancer Syndrome.Simultaneous detection of genetic and copy number alterations in BRCA1/2 genes.
P2860
Q26741855-36356BD5-3A66-43A1-8099-0DAD1A76D32BQ26864332-BB9E09B7-F36F-4671-B925-1EE5943D8D17Q30574042-550D4A24-E7A0-46AD-AE86-F9550296FF02Q30694646-7AC1A966-9818-47B2-89C4-77074A5C5C29Q30841756-13123F70-68BE-4F8C-BD41-8D6232FA2EBAQ31132377-3980F5AF-58FE-48A8-9013-12EA2A5461F9Q33636157-141B5C2C-741F-4028-AA31-95B46C7A43CAQ33836680-946081A8-17C8-4952-B6BC-D18CB85DC2DAQ33903966-31785DBD-7B7F-4952-9DBE-EE6DCBB4B893Q34684253-70E3ABFD-BC44-46E4-89DA-3124B27F2E21Q34987476-07A6131A-CC60-4819-83BD-95F1FC4AA223Q35095944-6D8FEA97-49C0-4013-AAE2-1AB4DDC10FA6Q35098360-1EA59252-022F-48E3-B0B4-6002FB122112Q35135929-DCE9C512-113B-43E1-9F79-FA283A8DC480Q35336961-C17C2F49-B78E-4FF4-8147-58E02A2E6906Q35600785-9BA51816-D08D-4D82-B394-645B7D126880Q35609850-41C8BE52-CAB1-4FDF-A025-5A4A52E616A2Q35722508-33009D18-BF0E-464F-A0E2-4BBDCE31BFB4Q35731152-B9BD28D5-4CE4-4B3B-B95E-6763518CDE79Q35841629-BB9B185B-CCAB-4288-853C-D40D8AE2A957Q36029740-A3DB84E2-4772-4471-A790-1E04DD88EB23Q36239238-C88377BA-E0B8-486C-8D2C-D42714F47B08Q36292548-5019186D-E04D-4DAB-88C7-0F411A0479AAQ36355920-D952B312-DD5F-494D-B775-2E693A3FC55CQ37554531-85E37D29-717C-4D5D-9A39-402FF283DF05Q37595954-8E2C6995-5A6E-420F-B343-6210A6A9BF12Q37629053-17EBE641-9ED5-40CF-AC98-11CD0A07CD18Q37641695-45986398-5609-4C31-A20B-D399D6E8CEF6Q38364721-08E2A047-E6EB-408D-B0C6-37FA88A934AFQ38573701-C4635001-3ACF-48A5-BD01-2876D77BB85DQ38625070-37A06777-5757-4818-AF9C-531791986A95Q38845359-7A3AA750-7EC3-408B-88E6-3BE1DBA17469Q39395816-00AB58A6-0685-4F92-954D-57C6CDB2AD29Q40481841-6C99B804-B1E1-43E3-B21A-82DE8FF02382Q40892042-7D7472DF-AC4C-4316-9849-E39DD52CE93FQ42121714-1C4A5C09-4BE0-4309-8B66-7415A3F53669Q43580712-CE1FE589-11BF-4802-8CF7-A020711D0CE9Q48172763-DDC6020F-841F-4585-9599-6B5BFFAE8FB3Q48268585-53DDB5AC-D692-4E99-B6B0-5BDFEFEE21B5Q49194645-974C16E8-699F-403D-AA0E-47599E219EDF
P2860
Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.
description
2012 nî lūn-bûn
@nan
2012 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Next-generation sequencing mee ...... ysis of BRCA1 and BRCA2 genes.
@ast
Next-generation sequencing mee ...... ysis of BRCA1 and BRCA2 genes.
@en
Next-generation sequencing mee ...... ysis of BRCA1 and BRCA2 genes.
@nl
type
label
Next-generation sequencing mee ...... ysis of BRCA1 and BRCA2 genes.
@ast
Next-generation sequencing mee ...... ysis of BRCA1 and BRCA2 genes.
@en
Next-generation sequencing mee ...... ysis of BRCA1 and BRCA2 genes.
@nl
prefLabel
Next-generation sequencing mee ...... ysis of BRCA1 and BRCA2 genes.
@ast
Next-generation sequencing mee ...... ysis of BRCA1 and BRCA2 genes.
@en
Next-generation sequencing mee ...... ysis of BRCA1 and BRCA2 genes.
@nl
P2093
P2860
P50
P356
P1476
Next-generation sequencing mee ...... ysis of BRCA1 and BRCA2 genes.
@en
P2093
Adriana Lopez-Doriga
Carolina Gómez
Conxi Lázaro
Eva Montes
Eva Tornero
Gabriel Capellá
Mireia Menéndez
Olga Campos
Raquel Cuesta
Sara González
P2860
P2888
P304
P356
10.1038/EJHG.2012.270
P407
P50
P577
2012-12-19T00:00:00Z
P5875
P6179
1010219922