Germline Variation in Cancer-Susceptibility Genes in a Healthy, Ancestrally Diverse Cohort: Implications for Individual Genome Sequencing

RFMix: A Discriminative Modeling Approach for Rapid and Robust Local-Ancestry Inference

(2013) Brian K. Maples et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

(2013) Robert C. Green et al.   GENETICS IN MEDICINE

Large-scale genotyping identifies 41 new loci associated with breast cancer risk

(2013) Kyriaki Michailidou et al.   NATURE GENETICS

Sequencing studies in human genetics: design and interpretation

(2013) David B. Goldstein et al.   NATURE REVIEWS GENETICS

Functional and Structural Analysis of C-Terminal BRCA1 Missense Variants

(2013) Francisco Quiles et al.   PLoS One

Diagnostic Cancer Genome Sequencing and the Contribution of Germline Variants

(2013) O. Kilpivaara et al.   SCIENCE

Cancer Genome Landscapes

(2013) B. Vogelstein et al.   SCIENCE

Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing

(2013) Jason O'Rawe et al.   Genome Medicine

Deleterious- and Disease-Allele Prevalence in Healthy Individuals: Insights from Current Predictions, Mutation Databases, and Population-Scale Resequencing

(2012) Yali Xue et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes

(2012) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Risk Prediction Models for Colorectal Cancer: A Review

(2012) A. K. Win et al.   CANCER EPIDEMIOLOGY BIOMARKERS & PREVENTION

A Classification Model for BRCA2 DNA Binding Domain Missense Variants Based on Homology-Directed Repair Activity

(2012) L. Guidugli et al.   CANCER RESEARCH

A Comprehensive Genetic Approach for Improving Prediction of Skin Cancer Risk in Humans

(2012) Ana I. Vazquez et al.   GENETICS

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

(2012)   NATURE

The UCSC Genome Browser database: extensions and updates 2013

(2012) Laurence R. Meyer et al.   NUCLEIC ACIDS RESEARCH

Limitations of the Human Reference Genome for Personalized Genomics

(2012) Jeffrey A. Rosenfeld et al.   PLoS One

Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes

(2012) J. A. Tennessen et al.   SCIENCE

An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People

(2012) M. R. Nelson et al.   SCIENCE

Impact of BRCA1 BRCT Domain Missense Substitutions on Phosphopeptide Recognition

(2011) Nicolas Coquelle et al.   BIOCHEMISTRY

The variant call format and VCFtools

(2011) P. Danecek et al.   BIOINFORMATICS

Risk prediction models of breast cancer: a systematic review of model performances

(2011) Thunyarat Anothaisintawee et al.   BREAST CANCER RESEARCH AND TREATMENT

Genetic testing and cancer risk management recommendations by physicians for at-risk relatives

(2011) Sharon E Plon et al.   GENETICS IN MEDICINE

Accurate and comprehensive sequencing of personal genomes

(2011) S. S. Ajay et al.   GENOME RESEARCH

dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions

(2011) Xiaoming Liu et al.   HUMAN MUTATION

Computational Techniques for Human Genome Resequencing Using Mated Gapped Reads

(2011) Paolo Carnevali et al.   JOURNAL OF COMPUTATIONAL BIOLOGY

Mutations and polymorphic BRCA variants transmission in breast cancer familial members

(2010) Brunella Pilato et al.   BREAST CANCER RESEARCH AND TREATMENT

Challenges of sequencing human genomes

(2010) D. C. Koboldt et al.   BRIEFINGS IN BIOINFORMATICS

Myelosuppression by sunitinib is flt-3 genotype dependent

(2010) N P van Erp et al.   BRITISH JOURNAL OF CANCER

Rare genetic variants and the risk of cancer

(2010) Walter Bodmer et al.   CURRENT OPINION IN GENETICS & DEVELOPMENT

Germline Genetic Variation, Cancer Outcome, and Pharmacogenetics

(2010) Linda Coate et al.   JOURNAL OF CLINICAL ONCOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Statistical analysis strategies for association studies involving rare variants

(2010) Vikas Bansal et al.   NATURE REVIEWS GENETICS

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

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

BRCA1andBRCA2mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer

(2009) Michael J. Hall et al.   CANCER

BRCA1 and BRCA2 mutations across race and ethnicity: distribution and clinical implications

(2009) Allison W Kurian   CURRENT OPINION IN OBSTETRICS & GYNECOLOGY

Fast model-based estimation of ancestry in unrelated individuals

(2009) D. H. Alexander et al.   GENOME RESEARCH

Pharmacogenetic Pathway Analysis for Determination of Sunitinib-Induced Toxicity

(2009) Nielka P. van Erp et al.   JOURNAL OF CLINICAL ONCOLOGY

COSMIC (the Catalogue of Somatic Mutations in Cancer): a resource to investigate acquired mutations in human cancer

(2009) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

Human Genome Sequencing Using Unchained Base Reads on Self-Assembling DNA Nanoarrays

(2009) R. Drmanac et al.   SCIENCE

African Genetic Diversity: Implications for Human Demographic History, Modern Human Origins, and Complex Disease Mapping

(2008) Michael C. Campbell et al.   Annual Review of Genomics and Human Genetics

The BOADICEA model of genetic susceptibility to breast and ovarian cancers: updates and extensions

(2008) A C Antoniou et al.   BRITISH JOURNAL OF CANCER

Genomic profiling of 766 cancer-related genes in archived esophageal normal and carcinoma tissues

(2008) Jing Chen et al.   INTERNATIONAL JOURNAL OF CANCER

The role of PTEN signaling perturbations in cancer and in targeted therapy

(2008) M Keniry et al.   ONCOGENE