相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer
Nicholas J. Roberts et al.
CANCER DISCOVERY (2016)
Clinically Significant Germline Mutations in Cancer-Causing Genes Identified Through Research Studies Should Be Offered to Research Participants by Genetic Counselors
Laura E. Forrest et al.
JOURNAL OF CLINICAL ONCOLOGY (2016)
Genomic analyses identify molecular subtypes of pancreatic cancer
Peter Bailey et al.
NATURE (2016)
Analysis of protein-coding genetic variation in 60,706 humans
Monkol Lek et al.
NATURE (2016)
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
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Whole genomes redefine the mutational landscape of pancreatic cancer
Nicola Waddell et al.
NATURE (2015)
'Someday it will be the norm': physician perspectives on the utility of genome sequencing for patient care in the MedSeq Project
Jason L. Vassy et al.
PERSONALIZED MEDICINE (2015)
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)
Christine Weiner
AMERICAN JOURNAL OF EPIDEMIOLOGY (2014)
Return of Genomic Results to Research Participants: The Floor, the Ceiling, and the Choices In Between
Gail P. Jarvik et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2014)
Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium
Jonathan S. Berg et al.
GENETICS IN MEDICINE (2014)
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing
GENETICS IN MEDICINE (2014)
The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience
Lauren Lawrence et al.
GENETICS IN MEDICINE (2014)
Physicians' Attitudes About Multiplex Tumor Genomic Testing
Stacy W. Gray et al.
JOURNAL OF CLINICAL ONCOLOGY (2014)
Realizing the promise of cancer predisposition genes
Nazneen Rahman
NATURE (2014)
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
Bryony A. Thompson et al.
NATURE GENETICS (2014)
A general framework for estimating the relative pathogenicity of human genetic variants
Martin Kircher et al.
NATURE GENETICS (2014)
Returning individual research results for genome sequences of pancreatic cancer
Amber L. Johns et al.
GENOME MEDICINE (2014)
Incidental Variants Are Critical for Genomics
Leslie G. Biesecker
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Actionable, Pathogenic Incidental Findings in 1,000 Participants' Exomes
Michael O. Dorschner et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2013)
Return of Individual Research Results and Incidental Findings: Facing the Challenges of Translational Science
Susan M. Wolf
ANNUAL REVIEW OF GENOMICS AND HUMAN GENETICS, VOL 14 (2013)
Identifying Mendelian disease genes with the Variant Effect Scoring Tool
Hannah Carter et al.
BMC GENOMICS (2013)
Improving mutation notification when new genetic information is identified in research: a trial of two strategies in familial breast cancer
Claire E. Wakefield et al.
GENETICS IN MEDICINE (2013)
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing
Robert C. Green et al.
GENETICS IN MEDICINE (2013)
Patient Autonomy and Incidental Findings in Clinical Genomics
Susan M. Wolf et al.
SCIENCE (2013)
Ethics and Genomic Incidental Findings
Amy L. McGuire et al.
SCIENCE (2013)
Processes and preliminary outputs for identification of actionable genes as incidental findings in genomic sequence data in the Clinical Sequencing Exploratory Research Consortium
Jonathan S. Berg et al.
GENETICS IN MEDICINE (2013)
Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes
Andrew V. Biankin et al.
NATURE (2012)
Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time
Jonathan S. Berg et al.
GENETICS IN MEDICINE (2011)
LOVD v.2.0: The Next Generation in Gene Variant Databases
Ivo F. A. C. Fokkema et al.
HUMAN MUTATION (2011)
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor
William McLaren et al.
BIOINFORMATICS (2010)
Ethical and Practical Guidelines for Reporting Genetic Research Results to Study Participants Updated Guidelines From a National Heart, Lung, and Blood Institute Working Group
Richard R. Fabsitz et al.
CIRCULATION-CARDIOVASCULAR GENETICS (2010)
Detection of nonneutral substitution rates on mammalian phylogenies
Katherine S. Pollard et al.
GENOME RESEARCH (2010)
International network of cancer genome projects
Thomas J. Hudson et al.
NATURE (2010)
MutationTaster evaluates disease-causing potential of sequence alterations
Jana Marie Schwarz et al.
NATURE METHODS (2010)
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
Prateek Kumar et al.
NATURE PROTOCOLS (2009)
The Human Gene Mutation Database: 2008 update
Peter D. Stenson et al.
GENOME MEDICINE (2009)
Computational approaches for predicting the biological effect of p53 missense mutations: a comparison of three sequence analysis based methods
E Mathe et al.
NUCLEIC ACIDS RESEARCH (2006)
Evolutionarily conserved elements in vertebrate, insect, worm, and yeast genomes
A Siepel et al.
GENOME RESEARCH (2005)
分享论文
