Current CNV Technical standards published in 2020 (Riggs et. al) is “version 3.0”currently discussing updates which will eventually be published as v4.0. https://t.co/nxqFlQ0D4w
#CNVs - individually rare, collectively common. #ThinkGenetics
RT @Autism_Journal: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus reco…
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
We found that mapping precise breakpoint junctions of deletions and duplications helps to classify the pathogenicity of CNVs using the new @TheACMG guidelines @jodieingles27 https://t.co/AE34o8NeAn
In particular, sections 4 & 5 in table 1 (copy number loss) seem specific to dominant conditions... How do I assign points in case of recessive disease? (Can I? I’m mainly looking at possible recessive solutions in known AR genes w/ path SNV paired w/
While guidelines exist to interpret SVs (especially CNVs, see ACMG guidelines) in coding regions of the genome, interpretation of SVs with breakpoints in non-coding regions remains challenging. https://t.co/fP8u8FyroW
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 @joowook: And they're out! CNV interpretation guidelines from @TheACMG and @ClinGenResource. Now time for @acgs_news to take a good loo…
RT @dunca_diana: The updated ACMG standards for the interpretation and reporting of CNV introduce a quantitative, evidence-based scoring fr…
RT @dunca_diana: The updated ACMG standards for the interpretation and reporting of CNV introduce a quantitative, evidence-based scoring fr…
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
RT @geovcnt: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendat…
RT @geovcnt: Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendat…
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/vFIjUG
RT @TheACMG: Points-based scoring rubrics to guide laboratories toward more consistent CNV interpretations are provided in new technical st…
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
Technical standards for the interpretation & reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics & Genomics & the Clinical Genome Resource (ClinGen) - https://t.co/lEwF4
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @TheACMG: “It is important to recognize that no singular algorithm will apply in all scenarios…professional judgment should always be us…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
RT @TheACMG: “It is important to recognize that no singular algorithm will apply in all scenarios…professional judgment should always be us…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @TheACMG: “It is important to recognize that no singular algorithm will apply in all scenarios…professional judgment should always be us…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @TheACMG: “It is important to recognize that no singular algorithm will apply in all scenarios…professional judgment should always be us…
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
RT @Abhinav_Jain_19: #ACMG criteria for Copy number variations https://t.co/Y2HJg6SvDx
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
#ACMG criteria for Copy number variations https://t.co/Y2HJg6SvDx
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
RT @TheACMG: “It is important to recognize that no singular algorithm will apply in all scenarios…professional judgment should always be us…
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
Important new update to classification of CNV's. "Uncouple variant pathogenicity from patient phenotype". Same variant cannot be likely path in one person but VUS in another.
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
RT @TheACMG: “It is important to recognize that no singular algorithm will apply in all scenarios…professional judgment should always be us…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @TheACMG: “It is important to recognize that no singular algorithm will apply in all scenarios…professional judgment should always be us…
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
@Pathologists and @AMPath professionals must always remember that we have to apply our professional judgement and expertise - medical practice includes laboratory medicine!
RT @TheACMG: “It is important to recognize that no singular algorithm will apply in all scenarios…professional judgment should always be us…
RT @HeidiRehm: Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should…
Thank you for highlighting this issue! A variant is not pathogenic in one patient and benign in another. The variant should have one classification based on the totality of evidence (including your case) regardless of whether that variant explains your pat
RT @TheACMG: “It is important to recognize that no singular algorithm will apply in all scenarios…professional judgment should always be us…
“It is important to recognize that no singular algorithm will apply in all scenarios…professional judgment should always be used when evaluating evidence & assigning a classification” in new Standards for Interpreting/Reporting #CNVs ACMG @ClinGenResou
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
We’ve been waiting for this!! 🙌🏼🙌🏼
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
RT @TheACMG: CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for indi…
CNVs should be classified consistently between patients based on evidence, with a discussion of clinical significance for individual patient in the report say ACMG & @ClinGenResource in new technical standards https://t.co/VNsJ9wJa3T #CNVs #medicalgene