The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria. https://t.co/GVrf884amo
Gene-phenotype association for #epilepsy by Ingo Helbig & colleagues #ACMG #DNA https://t.co/QNGWqEgBkq
RT @LaurelCoons: #Genes Are Not Created Equal: 👏A good read 👏”Develop gene‐specific assessment criteria” 👏”Gene‐specific variant curatio…
RT @LaurelCoons: #Genes Are Not Created Equal: 👏A good read 👏”Develop gene‐specific assessment criteria” 👏”Gene‐specific variant curatio…
Important to understand. 👇🏼👇🏼
RT @JohnMillichapMD: The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene…
The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria - Helbig - 2018 - Human Mutation - Wiley Online Library https://t.co/tOTWFfp9dN
RT @katiehelbig: Proud to present the ongoing work of the @ClinGenResource Epilepsy Gene Curation Expert Panel. In addition to evaluating d…
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria. https://t.co/MvWkmgM6nG https://t.co/atoBKAC0Zm
#biocuration https://t.co/Kh3xMTGfZz The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
RT @katiehelbig: Proud to present the ongoing work of the @ClinGenResource Epilepsy Gene Curation Expert Panel. In addition to evaluating d…
RT @katiehelbig: Proud to present the ongoing work of the @ClinGenResource Epilepsy Gene Curation Expert Panel. In addition to evaluating d…
RT @katiehelbig: Proud to present the ongoing work of the @ClinGenResource Epilepsy Gene Curation Expert Panel. In addition to evaluating d…
RT @katiehelbig: Proud to present the ongoing work of the @ClinGenResource Epilepsy Gene Curation Expert Panel. In addition to evaluating d…
Cool list. Cool group @ClinGenResource https://t.co/8RYlFrIbHz
RT @katiehelbig: Proud to present the ongoing work of the @ClinGenResource Epilepsy Gene Curation Expert Panel. In addition to evaluating d…
RT @katiehelbig: Proud to present the ongoing work of the @ClinGenResource Epilepsy Gene Curation Expert Panel. In addition to evaluating d…
RT @katiehelbig: Proud to present the ongoing work of the @ClinGenResource Epilepsy Gene Curation Expert Panel. In addition to evaluating d…
RT @katiehelbig: Proud to present the ongoing work of the @ClinGenResource Epilepsy Gene Curation Expert Panel. In addition to evaluating d…
Thanks to all who are contributing to our epilepsy gene curation effort! @ClinGenResource
RT @katiehelbig: Proud to present the ongoing work of the @ClinGenResource Epilepsy Gene Curation Expert Panel. In addition to evaluating d…
RT @katiehelbig: Proud to present the ongoing work of the @ClinGenResource Epilepsy Gene Curation Expert Panel. In addition to evaluating d…
RT @KIF1A: @katiehelbig this will be a great presentation! Please do all you can to keep KIF1A on the diagnostic radar. Too many KIF1A fami…
@katiehelbig this will be a great presentation! Please do all you can to keep KIF1A on the diagnostic radar. Too many KIF1A families connect with us after years of misdiagnosis. This panel of experts can make a huge impact! Thanks to all of you Katie!
Proud to present the ongoing work of the @ClinGenResource Epilepsy Gene Curation Expert Panel. In addition to evaluating disease-gene relationships in #epilepsy, we're also aligning @IlaeWeb terminology w/other ontologies like @hp_ontology and MONDO. http