Search Menu
DOE PAGES title logo U.S. Department of Energy
Office of Scientific and Technical Information
Search Scholarly Publications

Title: Lessons from the CAGI-4 Hopkins clinical panel challenge

Journal Article · · Human Mutation
DOI: https://doi.org/10.1002/humu.23225 · OSTI ID:1375505
ORCiD logo [1];  [2];  [3];  [4];  [5];  [4];  [6];  [7];  [8];  [9];  [4];  [10]; ORCiD logo [11];  [12];  [13];  [8];  [14]; ORCiD logo [15];  [9];  [5]
  1. Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, Berkeley California
  2. Department of Plant and Microbial Biology, University of California, Berkeley California
  3. Department of Biomedical Sciences, University of Padova, Padova Italy
  4. Roche Sequencing Solutions, Belmont California
  5. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore Maryland
  6. Department of Biomedical Sciences, University of Padova, Padova Italy, Department of Women's and Children's Health, University of Padova, Padova Italy
  7. Department of Computer Science, University College London, London United Kingdom
  8. Qiagen Bioinformatics, Redwood City California
  9. Institute for Bioscience and Biotechnology Research, University of Maryland, Rockville Maryland, Computational Biology, Bioinformatics and Genomics, Biological Sciences Graduate Program, University of Maryland, College Park Maryland
  10. Department of Women's and Children's Health, University of Padova, Padova Italy
  11. Institute for Bioscience and Biotechnology Research, University of Maryland, Rockville Maryland, Department of Cell Biology and Molecular Genetics, University of Maryland, College Park Maryland
  12. Institute for Bioscience and Biotechnology Research, University of Maryland, Rockville Maryland
  13. Independent Consultant, Philadelphia Pennsylvania
  14. Division of Genetics, Department of Medicine, Brigham & Women's Hospital, Harvard Medical School, Boston Massachusetts, Department of Biomedical Informatics, Harvard Medical School, Boston Massachusetts
  15. Department of Biomedical Sciences, University of Padova, Padova Italy, CNR Institute of Neuroscience, Padova Italy
+ Show Author Affiliations

Sponsoring Organization:
USDOE
Grant/Contract Number:
AC02-05CH11231
OSTI ID:
1375505
Journal Information:
Human Mutation, Journal Name: Human Mutation Vol. 38 Journal Issue: 9; ISSN 1059-7794
Publisher:
WileyCopyright Statement
Country of Publication:
United States
Language:
English

References (26)

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data journal July 2010
A general framework for estimating the relative pathogenicity of human genetic variants journal February 2014
Analysis of protein-coding genetic variation in 60,706 humans journal August 2016
Common Disease-Rare Variant Hypothesis book January 2013
Predicting Functional Effect of Human Missense Mutations Using PolyPhen-2 journal January 2013
Genetic Misdiagnoses and the Potential for Health Disparities journal August 2016
Applying Cystic Fibrosis Transmembrane Conductance Regulator Genetics and CFTR2 Data to Facilitate Diagnoses journal February 2017
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm journal June 2009
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium journal June 2016
Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants journal October 2016
ClinVar: public archive of interpretations of clinically relevant variants journal November 2015
Estimating the Support of a High-Dimensional Distribution journal July 2001
Molecular diagnostic experience of whole-exome sequencing in adult patients journal December 2015
Deriving the consequences of genomic variants with the Ensembl API and SNP Effect Predictor journal June 2010
Crowdsourcing biomedical research: leveraging communities as innovation engines journal July 2016
SNPs3D: Candidate gene and SNP selection for association studies journal March 2006
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples journal August 2016
Molecular genetic testing and the future of clinical genomics journal May 2013
Human Gene Mutation Database (HGMD ® ): 2003 update : HGMD 2003 UPDATE journal April 2003
Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine journal November 2016
Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders journal November 2014
The MedSeq Project: a randomized trial of integrating whole genome sequencing into clinical medicine journal January 2014
Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders journal December 2004
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 journal March 2015
SIFT: predicting amino acid changes that affect protein function journal July 2003
Computational Approach to Annotating Variants of Unknown Significance in Clinical Next Generation Sequencing journal November 2015

Similar Records

Challenges in Building an End-to-End System for Acquisition, Management, and Integration of Diverse Data From Sensor Networks in Watersheds: Lessons From a Mountainous Community Observatory in East River, Colorado
Journal Article · 2019 · IEEE Access · OSTI ID:1839813
+19 more
Challenges and Lessons Learned From Fabrication, Testing, and Analysis of Eight MQXFA Low Beta Quadrupole Magnets for HL-LHC
Journal Article · 2023 · IEEE Transactions on Applied Superconductivity · OSTI ID:1994955
+54 more
Panel Session 79: Challenges and Lessons Learned in Radwaste Packaging, Transportation, Compliance, and Receipt
Conference · 2020 · OSTI ID:23030321
+3 more

Related Subjects