Lost in translation: returning germline genetic results in genome-scale cancer research

Clinically Significant Germline Mutations in Cancer-Causing Genes Identified Through Research Studies Should Be Offered to Research Participants by Genetic Counselors

(2016) Laura E. Forrest et al.   JOURNAL OF CLINICAL ONCOLOGY

Genomic analyses identify molecular subtypes of pancreatic cancer

(2016) Peter Bailey et al.   NATURE

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

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

Whole genomes redefine the mutational landscape of pancreatic cancer

(2015) Nicola Waddell et al.   NATURE

‘Someday it will be the norm’: physician perspectives on the utility of genome sequencing for patient care in the MedSeqProject

(2015) Jason L Vassy et al.   Personalized Medicine

Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer

(2015) N. J. Roberts et al.   Cancer Discovery

Anticipate and Communicate: Ethical Management of Incidental and Secondary Findings in the Clinical, Research, and Direct-to-Consumer Contexts (December 2013 Report of the Presidential Commission for the Study of Bioethical Issues)

(2014) C. Weiner   AMERICAN JOURNAL OF EPIDEMIOLOGY

Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between

(2014) Gail P. Jarvik et al.   AMERICAN JOURNAL OF HUMAN GENETICS

ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing

(2014)   GENETICS IN MEDICINE

The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience

(2014) Lauren Lawrence et al.   GENETICS IN MEDICINE

Physicians' Attitudes About Multiplex Tumor Genomic Testing

(2014) Stacy W. Gray et al.   JOURNAL OF CLINICAL ONCOLOGY

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

Returning individual research results for genome sequences of pancreatic cancer

(2014) Amber L Johns et al.   Genome Medicine

Incidental Variants Are Critical for Genomics

(2013) Leslie G. Biesecker   AMERICAN JOURNAL OF HUMAN GENETICS

Actionable, Pathogenic Incidental Findings in 1,000 Participants’ Exomes

(2013) Michael O. Dorschner et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Return of Individual Research Results and Incidental Findings: Facing the Challenges of Translational Science

(2013) Susan M. Wolf   Annual Review of Genomics and Human Genetics

Identifying Mendelian disease genes with the Variant Effect Scoring Tool

(2013) Hannah Carter et al.   BMC GENOMICS

Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium

(2013) Jonathan S. Berg et al.   GENETICS IN MEDICINE

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

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

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

(2013) Bryony A Thompson et al.   NATURE GENETICS

Patient Autonomy and Incidental Findings in Clinical Genomics

(2013) S. M. Wolf et al.   SCIENCE

Ethics and Genomic Incidental Findings

(2013) A. L. McGuire et al.   SCIENCE

Improving mutation notification when new genetic information is identified in research: a trial of two strategies in familial breast cancer

(2012) Claire E. Wakefield et al.   GENETICS IN MEDICINE

Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes

(2012) Andrew V. Biankin et al.   NATURE

Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time

(2011) Jonathan S Berg et al.   GENETICS IN MEDICINE

LOVD v.2.0: the next generation in gene variant databases

(2011) Ivo F. A. C. Fokkema et al.   HUMAN MUTATION

Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor

(2010) William McLaren et al.   BIOINFORMATICS

Ethical and Practical Guidelines for Reporting Genetic Research Results to Study Participants

(2010) Richard R. Fabsitz et al.   Circulation-Cardiovascular Genetics

International network of cancer genome projects

(2010) Thomas J. Hudson (Chairperson) et al.   NATURE

MutationTaster evaluates disease-causing potential of sequence alterations

(2010) Jana Marie Schwarz et al.   NATURE METHODS

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

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine