Imperial College London
Portrait Picture

DrAngharadRoberts

Faculty of Medicine, National Heart & Lung Institute

Clinical Senior Lecturer in Cardiovascular Genetics
 
 
 
//

Contact

 

+44 (0)20 3313 8313angharad.roberts Website

 
 
//

Location

 

Cardiovascular Genetics and GenomicsSydney StreetRoyal Brompton Campus

//

Summary

 

Publications

Citation

BibTex format

@unpublished{DiStefano:2022:10.1101/2022.01.03.21268593,
author = {DiStefano, MT and Goehringer, S and Babb, L and Alkuraya, FS and Amberger, J and Amin, M and Austin-Tse, C and Balzotti, M and Berg, JS and Birney, E and Bocchini, C and Bruford, EA and Coffey, AJ and Collins, H and Cunningham, F and Daugherty, LC and Einhorn, Y and Firth, HV and Fitzpatrick, DR and Foulger, RE and Goldstein, J and Hamosh, A and Hurles, MR and Leigh, SE and Leong, IUS and Maddirevula, S and Martin, CL and McDonagh, EM and Olry, A and Puzriakova, A and Radtke, K and Ramos, EM and Rath, A and Riggs, ER and Roberts, AM and Rodwell, C and Snow, C and Stark, Z and Tahiliani, J and Tweedie, S and Ware, JS and Weller, P and Williams, E and Wright, CF and Yates, TM and Rehm, HL},
doi = {10.1101/2022.01.03.21268593},
title = {The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources},
url = {http://dx.doi.org/10.1101/2022.01.03.21268593},
year = {2022}
}
Download

RIS format (EndNote, RefMan)

TY  - UNPB
AB  - <jats:sec><jats:title>PURPOSE</jats:title><jats:p>Several groups and resources provide information that pertains to the validity of gene-disease relationships used in genomic medicine and research; however, universal standards and terminologies to define the evidence base for the role of a gene in disease, and a single harmonized resource were lacking. To tackle this issue, the Gene Curation Coalition (GenCC) was formed.</jats:p></jats:sec><jats:sec><jats:title>METHODS</jats:title><jats:p>The GenCC drafted harmonized definitions for differing levels of gene-disease validity based on existing resources, and performed a modified Delphi survey with three rounds to narrow the list of terms. The GenCC also developed a unified database to display curated gene-disease validity assertions from its members.</jats:p></jats:sec><jats:sec><jats:title>RESULTS</jats:title><jats:p>Based on 241 survey responses from the genetics community, a consensus term set was chosen for grading gene-disease validity and database submissions. As of December 2021, the database contains 15,241 gene-disease assertions on 4,569 unique genes from 12 submitters. When comparing submissions to the database from distinct sources, conflicts in assertions of gene-disease validity ranged from 5.3% to 13.4%.</jats:p></jats:sec><jats:sec><jats:title>CONCLUSION</jats:title><jats:p>Terminology standardization, sharing of gene-disease validity classifications, and resolution of curation conflicts will facilitate collaborations across international curation efforts and in turn, improve consistency in genetic testing and variant interpretation.</jats:p></jats:sec>
AU  - DiStefano,MT
AU  - Goehringer,S
AU  - Babb,L
AU  - Alkuraya,FS
AU  - Amberger,J
AU  - Amin,M
AU  - Austin-Tse,C
AU  - Balzotti,M
AU  - Berg,JS
AU  - Birney,E
AU  - Bocchini,C
AU  - Bruford,EA
AU  - Coffey,AJ
AU  - Collins,H
AU  - Cunningham,F
AU  - Daugherty,LC
AU  - Einhorn,Y
AU  - Firth,HV
AU  - Fitzpatrick,DR
AU  - Foulger,RE
AU  - Goldstein,J
AU  - Hamosh,A
AU  - Hurles,MR
AU  - Leigh,SE
AU  - Leong,IUS
AU  - Maddirevula,S
AU  - Martin,CL
AU  - McDonagh,EM
AU  - Olry,A
AU  - Puzriakova,A
AU  - Radtke,K
AU  - Ramos,EM
AU  - Rath,A
AU  - Riggs,ER
AU  - Roberts,AM
AU  - Rodwell,C
AU  - Snow,C
AU  - Stark,Z
AU  - Tahiliani,J
AU  - Tweedie,S
AU  - Ware,JS
AU  - Weller,P
AU  - Williams,E
AU  - Wright,CF
AU  - Yates,TM
AU  - Rehm,HL
DO  - 10.1101/2022.01.03.21268593
PY  - 2022///
TI  - The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources
UR  - http://dx.doi.org/10.1101/2022.01.03.21268593
ER  -
Download