The updated ACMG standards for the interpretation and reporting of CNV introduce a quantitative, evidence-based scoring framework and recommend “uncoupling” the classification of a variant from its potential implications for a particular individual. https
RT @TheACMG: Points-based scoring rubrics to guide laboratories toward more consistent CNV interpretations are provided in new technical st…
RT @clesemartin: Don't forget to check out the new CNV Calculator to go with the new scoring metrics! https://t.co/HUcDPN01uT https://t.co/…
RT @clesemartin: Don't forget to check out the new CNV Calculator to go with the new scoring metrics! https://t.co/HUcDPN01uT https://t.co/…
CNV classification will change to the 5-tier system for consistency with ACMG/@AMPath sequence variant interpretation guidelines, say ACMG & @ClinGenResource in new standards https://t.co/VNsJ9wJa3T #medicalgenetics #CNVs @PAGenetics @GeneticCouns
RT @joowook: And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good loo…
RT @TheACMG: Points-based scoring rubrics to guide laboratories toward more consistent CNV interpretations are provided in new technical st…
RT @MFT_Genomics: New CNV interpretation guidelines from @TheACMG and @ClinGenResource. Technical standards for the interpretation and repo…
RT @TheACMG: Points-based scoring rubrics to guide laboratories toward more consistent CNV interpretations are provided in new technical st…
RT @TheACMG: Points-based scoring rubrics to guide laboratories toward more consistent CNV interpretations are provided in new technical st…
RT @joowook: And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good loo…
RT @joowook: And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good loo…
RT @TheACMG: Points-based scoring rubrics to guide laboratories toward more consistent CNV interpretations are provided in new technical st…
RT @TheACMG: Points-based scoring rubrics to guide laboratories toward more consistent CNV interpretations are provided in new technical st…
RT @clesemartin: Don't forget to check out the new CNV Calculator to go with the new scoring metrics! https://t.co/HUcDPN01uT https://t.co/…
RT @clesemartin: Don't forget to check out the new CNV Calculator to go with the new scoring metrics! https://t.co/HUcDPN01uT https://t.co/…
Don't forget to check out the new CNV Calculator to go with the new scoring metrics! https://t.co/HUcDPN01uT
And Erin is presenting right now about how ClinGen performs gene curation using collaborative efforts #nsgc2019
Check out recent publication from Erin Rooney Riggs et al. on technical standards for interpretation and reporting of CNVs through ACMG and ClinGen collaboration. #nsgc19 https://t.co/HewWzFAFha
RT @joowook: And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good loo…
RT @joowook: And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good loo…
RT @Autism_Journal: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus reco…
RT @TheACMG: Points-based scoring rubrics to guide laboratories toward more consistent CNV interpretations are provided in new technical st…
RT @TheACMG: Points-based scoring rubrics to guide laboratories toward more consistent CNV interpretations are provided in new technical st…
RT @TheACMG: Points-based scoring rubrics to guide laboratories toward more consistent CNV interpretations are provided in new technical st…
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). https://t.co/bh345
RT @TheACMG: Points-based scoring rubrics to guide laboratories toward more consistent CNV interpretations are provided in new technical st…
RT @TheACMG: Points-based scoring rubrics to guide laboratories toward more consistent CNV interpretations are provided in new technical st…
RT @TheACMG: Points-based scoring rubrics to guide laboratories toward more consistent CNV interpretations are provided in new technical st…
RT @TheACMG: Points-based scoring rubrics to guide laboratories toward more consistent CNV interpretations are provided in new technical st…
Points-based scoring rubrics to guide laboratories toward more consistent CNV interpretations are provided in new technical standards from ACMG & @ClinGenResource https://t.co/VNsJ9wJa3T #medicalgenetics #CNVs @AMPath @PAGenetics @GeneticCouns
RT @jsantoyo: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommenda…
RT @joowook: And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good loo…
RT @joowook: And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good loo…
RT @joowook: And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good loo…
RT @joowook: And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good loo…
RT @MFT_Genomics: New CNV interpretation guidelines from @TheACMG and @ClinGenResource. Technical standards for the interpretation and repo…
New CNV interpretation guidelines from @TheACMG and @ClinGenResource. Technical standards for the interpretation and reporting of constitutional copy-number variants: #Genomics #Genetics #CNVs https://t.co/kNen8sELUD
Joint @TheACMG and @ClinGenResource recommendations for CNVs are out https://t.co/D0Oe2IDN6i
RT @joowook: And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good loo…
RT @joowook: And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good loo…
RT @joowook: And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good loo…
RT @joowook: And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good loo…
La ACMG, en colaboración con el consorcio ClinGen, acaba de publicar recomendaciones actualizadas para la interpretación y clasificación de CNVs. Proponen su clasificación en 5 categorías, establecidas ya para variantes puntuales. https://t.co/xrpmHEn3L4
RT @joowook: And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good loo…
RT @emedgene: ACMG & ClinGen guidelines for interpretation & reporting of constitutional CNVs to promote consistency & transparency across…
RT @joowook: And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good loo…
RT @joowook: And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good loo…
RT @joowook: And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good loo…
RT @joowook: And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good loo…
RT @joowook: And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good loo…
RT @jsantoyo: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommenda…
RT @joowook: And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good loo…
RT @joowook: And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good loo…
RT @joowook: And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good loo…
And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good look: https://t.co/MSYTlWGTJX Major updates include decoupling variant classification from referral reasons, and introducing a scorin
RT @jsantoyo: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommenda…
Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of ACMG and ClinGen. https://t.co/GzcnPcQSmp
Explicit new guidance for interpreting #CNVs occurring within individual genes is provided in new technical standards from ACMG & @ClinGenResource to encourage consistency and transparency across clinical labs to improve quality of patient care https:/
ACMG & ClinGen guidelines for interpretation & reporting of constitutional CNVs to promote consistency & transparency across clinical labs; emphasizing on quantitative, evidence-based scoring framework & 5-tier variant classification system