HBOC multi-gene panel testing: comparison of two sequencing centers

Next-generation sequencing for hereditary breast and gynecologic cancer risk assessment

(2015) Allison W. Kurian et al.   CURRENT OPINION IN OBSTETRICS & GYNECOLOGY

Next-Generation Sequencing of the BRCA1 and BRCA2 Genes for the Genetic Diagnostics of Hereditary Breast and/or Ovarian Cancer

(2015) Daniel Trujillano et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Frequency of mutations in individuals with breast cancer referred forBRCA1andBRCA2testing using next-generation sequencing with a 25-gene panel

(2014) Nadine Tung et al.   CANCER

Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland

(2014) C. Cybulski et al.   CLINICAL GENETICS

Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes

(2014) Laurent Castéra et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Rapid and cost effective screening of breast and ovarian cancer genes using novel sequence capture method in clinical samples

(2014) Kristóf Árvai et al.   Familial Cancer

Prevalence of mutations in a panel of breast cancer susceptibility genes in BRCA1/2-negative patients with early-onset breast cancer

(2014) Kara N. Maxwell et al.   GENETICS IN MEDICINE

Clinical Evaluation of a Multiple-Gene Sequencing Panel for Hereditary Cancer Risk Assessment

(2014) Allison W. Kurian et al.   JOURNAL OF CLINICAL ONCOLOGY

The Validation and Clinical Implementation of BRCAplus: A Comprehensive High-Risk Breast Cancer Diagnostic Assay

(2014) Hansook Kim Chong et al.   PLoS One

Targeted Next-Generation Sequencing can Replace Sanger Sequencing in Clinical Diagnostics

(2013) Birgit Sikkema-Raddatz et al.   HUMAN MUTATION

Hereditary Breast Cancer: The Era of New Susceptibility Genes

(2013) Paraskevi Apostolou et al.   Biomed Research International

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

(2012) Lídia Feliubadaló et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Integrative genomics viewer

(2011) James T Robinson et al.   NATURE BIOTECHNOLOGY

Germline mutations in RAD51D confer susceptibility to ovarian cancer

(2011) Chey Loveday et al.   NATURE GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

Fast and accurate long-read alignment with Burrows–Wheeler transform

(2010) Heng Li et al.   BIOINFORMATICS

Estimates of cancer incidence and mortality in Europe in 2008

(2010) J. Ferlay et al.   EUROPEAN JOURNAL OF CANCER

Stampy: A statistical algorithm for sensitive and fast mapping of Illumina sequence reads

(2010) G. Lunter et al.   GENOME RESEARCH

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene

(2010) Alfons Meindl et al.   NATURE GENETICS

Target-enrichment strategies for next-generation sequencing

(2010) Lira Mamanova et al.   NATURE METHODS

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

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

(2010) Tom Walsh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Circos: An information aesthetic for comparative genomics

(2009) M. Krzywinski et al.   GENOME RESEARCH

Sequencing technologies — the next generation

(2009) Michael L. Metzker   NATURE REVIEWS GENETICS

Genetic Predisposition to Breast Cancer: Past, Present, and Future

(2008) Clare Turnbull et al.   Annual Review of Genomics and Human Genetics

First Revision of the German S3 Guideline ‘Diagnosis, Therapy, and Follow-Up of Breast Cancer’

(2008) Achim Wöckel et al.   Breast Care

Breast cancer susceptibility: current knowledge and implications for genetic counselling

(2008) Tim Ripperger et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2008) Sharon E. Plon et al.   HUMAN MUTATION