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Actionable, pathogenic incidental findings in 1,000 participants' exomes.

Actionable, pathogenic incidental findings in 1,000 participants' exomes.

http://www.wikidata.org/entity/Q37217044

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Gain-of-function ADCY5 mutations in familial dyskinesia with facial myokymia Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium Assessing the Costs and Cost-Effectiveness of Genomic Sequencing Incidental Findings with Genomic Testing: Implications for Genetic Counseling Practice The Human Genome Project, and recent advances in personalized genomics Next generation sequencing in endocrine practice Use of contemporary genetics in cardiovascular diagnosis Public preferences for the return of research results in genetic research: a conjoint analysis Connecting the CNTNAP2 Networks with Neurodevelopmental Disorders Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project.Actionable exomic incidental findings in 6503 participants: challenges of variant classification Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results Return of results in the genomic medicine projects of the eMERGE network The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data Ferret: a user-friendly Java tool to extract data from the 1000 Genomes Project.Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis.Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation.Lost in translation: returning germline genetic results in genome-scale cancer research Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genes Germline Variants in Targeted Tumor Sequencing Using Matched Normal DNA.Refining the structure and content of clinical genomic reports A web tool for the design and management of panels of genes for targeted enrichment and massive sequencing for clinical applications.Pharmacogenomics: Current State-of-the-Art Teaching genomic counseling: preparing the genetic counseling workforce for the genomic era Clinical interpretation and implications of whole-genome sequencing.Return of genomic results to research participants: the floor, the ceiling, and the choices in between.Genetic counseling in direct-to-consumer exome sequencing: a case report.Return of Results from Genomic Sequencing: A Policy Discussion of Secondary Findings for Cancer Predisposition.Comparative effectiveness of next generation genomic sequencing for disease diagnosis: design of a randomized controlled trial in patients with colorectal cancer/polyposis syndromes Clinical tumor sequencing: an incidental casualty of the American College of Medical Genetics and Genomics recommendations for reporting of incidental findings.Disease variants in genomes of 44 centenarians.Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability.Next-generation sequencing in clinical oncology: next steps towards clinical validation Determining the pathogenicity of genetic variants associated with cardiac channelopathies.Molecular findings among patients referred for clinical whole-exome sequencing.An epidemiological perspective of personalized medicine: the Estonian experience.National Institutes of Health Consensus Development Project on Criteria for Clinical Trials in Chronic Graft-versus-Host Disease: III. The 2014 Biomarker Working Group Report.

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Actionable, pathogenic incidental findings in 1,000 participants' exomes.

http://www.wikidata.org/entity/Q37217044

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on 19 September 2013

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vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

Actionable, pathogenic incidental findings in 1,000 participants' exomes.

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Actionable, pathogenic incidental findings in 1,000 participants' exomes.

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type

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Actionable, pathogenic incidental findings in 1,000 participants' exomes.

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Actionable, pathogenic incidental findings in 1,000 participants' exomes.

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prefLabel

Actionable, pathogenic incidental findings in 1,000 participants' exomes.

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Actionable, pathogenic incidental findings in 1,000 participants' exomes.

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J.AJHG.2013.08.006

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American Journal of Human Genetics

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Actionable, pathogenic incidental findings in 1,000 participants' exomes.

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Arno G Motulsky

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Brian H Shirts

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C Ronald Scott

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Carlos J Gallego

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Colin C Pritchard

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Daniel S Kim

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Deborah A Nickerson

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Elisabeth A Rosenthal

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Fuki M Hisama

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Holly K Tabor

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Principal components analysis corrects for stratification in genome-wide association studies

Desmosomal protein gene mutations in patients with idiopathic dilated cardiomyopathy undergoing cardiac transplantation: a clinicopathological study

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Return of individual research results from genome-wide association studies: experience of the Electronic Medical Records and Genomics (eMERGE) Network

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631-640

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scholarly article

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10.1016/J.AJHG.2013.08.006

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4

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93

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James T Bennett

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2013-09-19T00:00:00Z

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259084495

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3791261

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