An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
about
How peer-review constrains cognition: on the frontline in the knowledge sectorHigh-throughput sequencing technologiesThe Prostate Cancer DREAM Challenge: A Community-Wide Effort to Use Open Clinical Trial Data for the Quantitative Prediction of Outcomes in Metastatic Prostate CancerActionable exomic incidental findings in 6503 participants: challenges of variant classificationA survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.Data sharing in the undiagnosed diseases network.When "N of 2" is not enough: integrating statistical and functional data in gene discovery.Good Laboratory Standards for Clinical Next-Generation Sequencing Cancer Panel Tests.Developing patient-friendly genetic and genomic test reports: formats to promote patient engagement and understanding.Next-generation sequencing in clinical oncology: next steps towards clinical validationLiving laboratory: whole-genome sequencing as a learning healthcare enterprise.Toward better benchmarking: challenge-based methods assessment in cancer genomics.Churchill: an ultra-fast, deterministic, highly scalable and balanced parallelization strategy for the discovery of human genetic variation in clinical and population-scale genomics.Clinical pertinence metric enables hypothesis-independent genome-phenome analysis for neurologic diagnosis.The road from next-generation sequencing to personalized medicine.Challenges in exome analysis by LifeScope and its alternative computational pipelines.Reliably Detecting Clinically Important Variants Requires Both Combined Variant Calls and Optimized Filtering Strategies.A rigorous approach for selection of optimal variant sets for carrier screening with demonstration of clinical utility.A genome sequencing program for novel undiagnosed diseases.Mitigating false-positive associations in rare disease gene discoveryA framework for the detection of de novo mutations in family-based sequencing dataGenomic variant annotation and prioritization with ANNOVAR and wANNOVAR.RAS testing in metastatic colorectal cancer: advances in EuropeResponsible implementation of expanded carrier screening.Natural Allelic Variations in Highly Polyploidy Saccharum Complex.Integrating precision cancer medicine into healthcare-policy, practice, and research challenges.Diagnostic use of Massively Parallel Sequencing in Neuromuscular Diseases: Towards an Integrated Diagnosis.Blind prediction of deleterious amino acid variations with SNPs&GO.Exome sequencing explained: a practical guide to its clinical application.Clinical exome sequencing reports: current informatics practice and future opportunities.Principles of analytical validation of next-generation sequencing based mutational analysis for hematologic neoplasms in a CLIA-certified laboratory.Genetics of movement disorders in the next-generation sequencing era.Integration of next-generation sequencing in clinical diagnostic molecular pathology laboratories for analysis of solid tumours; an expert opinion on behalf of IQN Path ASBL.Critical points for an accurate human genome analysis.Biocompute Objects-A Step towards Evaluation and Validation of Biomedical Scientific Computations.M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity.Benchmarking distributed data warehouse solutions for storing genomic variant information.Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers.Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis.Settling the score: variant prioritization and Mendelian disease.
P2860
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P2860
An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.
description
2014 nî lūn-bûn
@nan
2014 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի մարտին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
An international effort toward ...... ults in the CLARITY Challenge.
@ast
An international effort toward ...... ults in the CLARITY Challenge.
@en
type
label
An international effort toward ...... ults in the CLARITY Challenge.
@ast
An international effort toward ...... ults in the CLARITY Challenge.
@en
prefLabel
An international effort toward ...... ults in the CLARITY Challenge.
@ast
An international effort toward ...... ults in the CLARITY Challenge.
@en
P2093
P2860
P50
P356
P1433
P1476
An international effort toward ...... sults in the CLARITY Challenge
@en
P2093
A Micheil Innes
Aaron Bossler
Adam P DeLuca
Aiden E Shearer
Alexander G Bassuk
Alexander Hahn
Alexander Hoischen
Alexander T Rakowsky
Aleš Maver
Ali Torkamani
P2860
P2888
P356
10.1186/GB-2014-15-3-R53
P50
P577
2014-03-25T00:00:00Z
P5875
P6179
1000435282