Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes

Multigene Panel Testing Provides a New Perspective on Lynch Syndrome

(2017) Carin R. Espenschied et al.   JOURNAL OF CLINICAL ONCOLOGY

Reference standards for next-generation sequencing

(2017) Simon A. Hardwick et al.   NATURE REVIEWS GENETICS

Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer

(2017) Rachel Pearlman et al.   JAMA Oncology

Revisiting breast cancer patients who previously tested negative for BRCA mutations using a 12-gene panel

(2016) Olivia Moran et al.   BREAST CANCER RESEARCH AND TREATMENT

Advances in the recognition and management of hereditary cancer

(2016) Anju Kulkarni et al.   BRITISH MEDICAL BULLETIN

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics

(2016) Sarah S. Kalia et al.   GENETICS IN MEDICINE

Advances in inherited cancers: Introduction

(2016) Elena M. Stoffel et al.   SEMINARS IN ONCOLOGY

Mutation analysis of the PALB2 gene in unselected pancreatic cancer patients in the Czech Republic

(2016) M. Borecka et al.   Cancer Genetics

Carrier screening by next-generation sequencing: health benefits and cost effectiveness

(2016) Mohammad Azimi et al.   Molecular Genetics & Genomic Medicine

Guidelines for diagnostic next-generation sequencing

(2015) Gert Matthijs et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

Gene-Panel Sequencing and the Prediction of Breast-Cancer Risk

(2015) Douglas F. Easton et al.   NEW ENGLAND JOURNAL OF MEDICINE

Mutation Analysis of the RAD51C and RAD51D Genes in High-Risk Ovarian Cancer Patients and Families from the Czech Republic

(2015) Marketa Janatova et al.   PLoS One

Association of Germline CHEK2 Gene Variants with Risk and Prognosis of Non-Hodgkin Lymphoma

(2015) Ondrej Havranek et al.   PLoS One

Mainstreaming genetic testing of cancer predisposition genes

(2014) N. Rahman   CLINICAL MEDICINE

Clinical Application of Whole-Genome Sequencing

(2014) William Gregory Feero   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Realizing the promise of cancer predisposition genes

(2014) Nazneen Rahman   NATURE

A general framework for estimating the relative pathogenicity of human genetic variants

(2014) Martin Kircher et al.   NATURE GENETICS

Sequencing depth and coverage: key considerations in genomic analyses

(2014) David Sims et al.   NATURE REVIEWS GENETICS

Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives

(2013) Min Zhao et al.   BMC BIOINFORMATICS

The PALB2 Gene Is a Strong Candidate for Clinical Testing in BRCA1- and BRCA2-Negative Hereditary Breast Cancer

(2013) M. Janatova et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

Gain-of-function mutations of PPM1D/Wip1 impair the p53-dependent G1 checkpoint

(2013) Petra Kleiblova et al.   JOURNAL OF CELL BIOLOGY

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration

(2012) H. Thorvaldsdottir et al.   BRIEFINGS IN BIOINFORMATICS

An integrated map of genetic variation from 1,092 human genomes

(2012)   NATURE

What can exome sequencing do for you?

(2011) J. Majewski et al.   JOURNAL OF MEDICAL GENETICS

Screening for genomic rearrangements in BRCA1 and BRCA2 genes in Czech high-risk breast/ovarian cancer patients: high proportion of population specific alterations in BRCA1 gene

(2010) Ivana Ticha et al.   BREAST CANCER RESEARCH AND TREATMENT

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

(2010) A. McKenna et al.   GENOME RESEARCH

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

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

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

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

(2009) K. Ye et al.   BIOINFORMATICS

Identification of deleterious mutations within three human genomes

(2009) S. Chun et al.   GENOME RESEARCH

Detection of nonneutral substitution rates on mammalian phylogenies

(2009) K. S. Pollard et al.   GENOME RESEARCH

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

(2009) Prateek Kumar et al.   Nature Protocols

Influence of dihydropyrimidine dehydrogenase gene (DPYD) coding sequence variants on the development of fluoropyrimidine-related toxicity in patients with high-grade toxicity and patients with excellent tolerance of fluoropyrimidine-based chemotherapy

(2009) Z. KLEIBL et al.   NEOPLASMA

The CHEK2 gene I157T mutation and other alterations in its proximity increase the risk of sporadic colorectal cancer in the Czech population

(2008) Zdenek Kleibl et al.   EUROPEAN JOURNAL OF CANCER

Inherited Susceptibility to Common Cancers

(2008) William D. Foulkes   NEW ENGLAND JOURNAL OF MEDICINE