(Q36029740)

11 August 2017

title

BRCA1-2 diagnostic workflow from next-generation sequencing technologies to variant identification and final report (English)

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11 August 2017

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Simona De Summa

3

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Stefania Tommasi

object named as

Stefania Tommasi

series ordinal

8

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Rosamaria Pinto

series ordinal

2

object named as

Rosamaria Pinto

1 reference

11 August 2017

6

Katia Danza

1 reference

11 August 2017

1

Brunella Pilato

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11 August 2017

4

Daniela Petriella

1 reference

11 August 2017

5

Rosanna Lacalamita

1 reference

11 August 2017

Angelo Paradiso

7

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11 August 2017

publication date

26 May 2016

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Genes, Chromosomes and Cancer

11 August 2017

published in

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11 August 2017

volume

55

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11 August 2017

issue

10

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11 August 2017

page(s)

803-813

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Advances in Alport syndrome diagnosis using next-generation sequencing

11 August 2017

cites work

1 reference

Effectiveness of preventive interventions in BRCA1/2 gene mutation carriers: a systematic review

21 January 2018

1 reference

Shining a light on dark sequencing: characterising errors in Ion Torrent PGM data

21 January 2018

1 reference

Development of a next-generation sequencing method for BRCA mutation screening: a comparison between a high-throughput and a benchtop platform

21 January 2018

1 reference

Nonoptical massive parallel DNA sequencing of BRCA1 and BRCA2 genes in a diagnostic setting.

21 January 2018

1 reference

Validation of an NGS Approach for Diagnostic BRCA1/BRCA2 Mutation Testing

21 January 2018

1 reference

The molecular analysis of BRCA1 and BRCA2: Next-generation sequencing supersedes conventional approaches

21 January 2018

1 reference

Genomic rearrangements in BRCA1 and BRCA2: A literature review.

21 January 2018

1 reference

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes

21 January 2018

1 reference

Assessing copy number alterations in targeted, amplicon-based next-generation sequencing data

21 January 2018

1 reference

Targeted, high-depth, next-generation sequencing of cancer genes in formalin-fixed, paraffin-embedded and fine-needle aspiration tumor specimens

21 January 2018

1 reference

Towards clinical molecular diagnosis of inherited cardiac conditions: a comparison of bench-top genome DNA sequencers

21 January 2018

1 reference

The use of denaturing high performance liquid chromatography (DHPLC) for mutation scanning of hereditary cancer genes

21 January 2018

1 reference

Clinical impact on ovarian cancer patients of massive parallel sequencing for BRCA mutation detection: the experience at Gemelli hospital and a literature review.

21 January 2018

1 reference

Delivering on the promise: poly ADP ribose polymerase inhibition as targeted anticancer therapy

21 January 2018

1 reference

Long-range PCR and next-generation sequencing of BRCA1 and BRCA2 in breast cancer.

21 January 2018

1 reference

Mutations and polymorphic BRCA variants transmission in breast cancer familial members.

21 January 2018

1 reference

Genetic risk transmission in a family affected by familial breast cancer

21 January 2018

1 reference

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

21 January 2018

1 reference

[Olaparib in ovarian cancer with BRCA mutation].

21 January 2018

1 reference

An integrated semiconductor device enabling non-optical genome sequencing

21 January 2018

1 reference

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease

21 January 2018

1 reference

Large genomic rearrangements of the BRCA1 and BRCA2 genes: review of the literature and report of a novel BRCA1 mutation

21 January 2018

1 reference

Chemotherapy for Patients with BRCA1 and BRCA2-Mutated Ovarian Cancer: Same or Different?

21 January 2018

1 reference

Streamlined ion torrent PGM-based diagnostics: BRCA1 and BRCA2 genes as a model

21 January 2018

1 reference

Molecular and in silico analysis of BRCA1 and BRCA2 variants

21 January 2018

1 reference

Validation of a semiconductor next-generation sequencing assay for the clinical genetic screening of CFTR.

21 January 2018

1 reference

Next-generation sequencing of the BRCA1 and BRCA2 genes for the genetic diagnostics of hereditary breast and/or ovarian cancer

21 January 2018

1 reference

Routine use of the Ion Torrent AmpliSeq™ Cancer Hotspot Panel for identification of clinically actionable somatic mutations

21 January 2018

1 reference

Ion torrent personal genome machine sequencing for genomic typing of Neisseria meningitidis for rapid determination of multiple layers of typing information

21 January 2018

1 reference

Improving indel detection specificity of the Ion Torrent PGM benchtop sequencer

21 January 2018

1 reference

Evaluation and optimisation of indel detection workflows for ion torrent sequencing of the BRCA1 and BRCA2 genes

21 January 2018

1 reference

Pulmonary Langerhans cell histiocytosis: profiling of multifocal tumors using next-generation sequencing identifies concordant occurrence of BRAF V600E mutations.

21 January 2018

1 reference

Maternal and paternal lineage double heterozygosity alteration in familial breast cancer: a first case report

21 January 2018

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Unclassified variants in BRCA genes: guidelines for interpretation

1 reference

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/GCC.22383

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11 August 2017

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