Related references
Note: Only part of the references are listed.Clinical Exome Performance for Reporting Secondary Genetic Findings
Jason Y. Park et al.
CLINICAL CHEMISTRY (2015)
Predictive genetic testing for adult-onset disorders in minors: a critical analysis of the arguments for and against the 2013 ACMG guidelines
J. A. Anderson et al.
CLINICAL GENETICS (2015)
Detecting somatic mosaicism: considerations and clinical implications
A. S. A. Cohen et al.
CLINICAL GENETICS (2015)
The impact of reporting incidental findings from exome and whole-genome sequencing: predicted frequencies based on modeling
Lucy-Enid Ding et al.
GENETICS IN MEDICINE (2015)
The cost-effectiveness of returning incidental findings from next-generation genomic sequencing
Caroline S. Bennette et al.
GENETICS IN MEDICINE (2015)
Predictive Genomic Testing of Children for Adult Onset Disorders: A Canadian Perspective
Michael J. Szego et al.
AMERICAN JOURNAL OF BIOETHICS (2014)
High burden of private mutations due to explosive human population growth and purifying selection
Feng Gao et al.
BMC GENOMICS (2014)
The Global Alliance for Genomics & Health
Sharon F. Terry
GENETIC TESTING AND MOLECULAR BIOMARKERS (2014)
The EGAPP initiative: lessons learned
Ned Calonge 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)
Molecular Findings Among Patients Referred for Clinical Whole-Exome Sequencing
Yaping Yang et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2014)
Integrating Multiple Genomic Data to Predict Disease-Causing Nonsynonymous Single Nucleotide Variants in Exome Sequencing Studies
Jiaxin Wu et al.
PLOS GENETICS (2014)
Illuminating the future of DNA sequencing
Mick Watson
GENOME BIOLOGY (2014)
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)
Recommendations for returning genomic incidental findings? We need to talk!
Wylie Burke et al.
GENETICS IN MEDICINE (2013)
Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data
Lora J. H. Bean et al.
HUMAN MUTATION (2013)
Large Numbers of Genetic Variants Considered to be Pathogenic are Common in Asymptomatic Individuals
Christopher A. Cassa et al.
HUMAN MUTATION (2013)
PhenoTips: Patient Phenotyping Software for Clinical and Research Use
Marta Girdea et al.
HUMAN MUTATION (2013)
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
Wenqing Fu et al.
NATURE (2013)
Projecting the performance of risk prediction based on polygenic analyses of genome-wide association studies
Nilanjan Chatterjee et al.
NATURE GENETICS (2013)
Clinical Genomic Database
Benjamin D. Solomon et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2013)
Genomics in Clinical Practice: Lessons from the Front Lines
Howard J. Jacob et al.
SCIENCE TRANSLATIONAL MEDICINE (2013)
Reflections on the Cost of Low-Cost Whole Genome Sequencing: Framing the Health Policy Debate
Timothy Caulfield et al.
PLOS BIOLOGY (2013)
Secondary Variants in Individuals Undergoing Exome Sequencing: Screening of 572 Individuals Identifies High-Penetrance Mutations in Cancer-Susceptibility Genes
Jennifer J. Johnston et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2012)
Informed consent for whole genome sequencing: A qualitative analysis of participant expectations and perceptions of risks, benefits, and harms
Holly K. Tabor et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2012)
Genomic dark matter: the reliability of short read mapping illustrated by the genome mappability score
Hayan Lee et al.
BIOINFORMATICS (2012)
Performance of computational tools in evaluating the functional impact of laboratory-induced amino acid mutations
Vanessa E. Gray et al.
BIOINFORMATICS (2012)
How accurate can genetic predictions be?
Jonathan M. Dreyfuss et al.
BMC GENOMICS (2012)
Beyond Diagnostic Accuracy: The Clinical Utility of Diagnostic Tests
Patrick M. M. Bossuyt et al.
CLINICAL CHEMISTRY (2012)
A guide for functional analysis of BRCA1 variants of uncertain significance
Gael A. Millot et al.
HUMAN MUTATION (2012)
Savant Genome Browser 2: visualization and analysis for population-scale genomics
Marc Fiume et al.
NUCLEIC ACIDS RESEARCH (2012)
SIFT web server: predicting effects of amino acid substitutions on proteins
Ngak-Leng Sim et al.
NUCLEIC ACIDS RESEARCH (2012)
The Predictive Capacity of Personal Genome Sequencing
Nicholas J. Roberts et al.
SCIENCE TRANSLATIONAL MEDICINE (2012)
Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units
Carol Jean Saunders et al.
SCIENCE TRANSLATIONAL MEDICINE (2012)
Comparison of Family History and SNPs for Predicting Risk of Complex Disease
Chuong B. Do et al.
PLOS GENETICS (2012)
Automated validation of genetic variants from large databases: ensuring that variant references refer to the same genomic locations
Mark Y. Tong et al.
BIOINFORMATICS (2011)
Experimental Designs for Robust Detection of Effects in Genome-Wide Case-Control Studies
Roderick D. Ball
GENETICS (2011)
A timely arrival for genomic medicine
Alan N. Mayer et al.
GENETICS IN MEDICINE (2011)
Carrier Testing for Severe Childhood Recessive Diseases by Next-Generation Sequencing
Callum J. Bell et al.
SCIENCE TRANSLATIONAL MEDICINE (2011)
Outcomes of interest in evidence-based evaluations of genetic tests
Jeffrey R. Botkin et al.
GENETICS IN MEDICINE (2010)
Polygenes, risk prediction, and targeted prevention of breast cancer
Paul D. P. Pharoah et al.
NEW ENGLAND JOURNAL OF MEDICINE (2008)
Statement on genetic diagnosis in children and adolescents
P. Borry et al.
CLINICAL GENETICS (2006)
Ethical, legal, and practical concerns about recontacting patients to inform them of new information: The case in medical genetics
AGW Hunter et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2001)