📢 Reassessment of #VUS in #tumor suppressor genes using new #ClinGen PP1/PP4 guidance can improve variant interpretation accuracy. 🧬 #EJHG #Genetics
www.nature.com/articles/s41...
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The ClinGen Severe Combined Immunodeficiency Disease Variant Curation Expert Panel: Specifications for classification of variants in ADA, DCLRE1C, IL2RG, IL7R, JAK3, RAG1, and RAG2 #RareDisease #Genetics #ClinGen #ACMG www.sciencedirect.com/science/arti...
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Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants #RareDisease #Genetics #ACMG #ClinGen www.cell.com/ajhg/fulltex...
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📣Online now!
📄Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline PALB2 sequence variants
#ClinGen
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Two sides of the same coin. There is a need to align #PGx resources with clinical genomics resources to better integrate #PGx into clinical practice. bit.ly/4mGeK4U #pharmacogenomics #ClinGen #ClinPGx #precisionmedicine
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Adaptation of ACMG/AMP Guidelines for Clinical Classification of BMPR2 Variants in Pulmonary Arterial Hypertension Resolves Variants of Unclear Pathogenicity in ClinVar #RareDisease #Genetics #ACMG #ClinGen #VECP #PAH onlinelibrary.wiley.com/doi/10.1155/...
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The image is a banner for a podcast episode set against a gradient background that transitions from dark to light golden brown from left to right. On the left side, there is an illustration of a library with bookshelves filled with books. A person with dark hair, wearing a light-colored lab coat, stands in front of the shelves, examining a book titled "Interpretation of Human Variants." Other book titles visible on the shelves include "Human Variants," "Experimental Results," "Genomic Data," and "Biocuration." An open book and a notebook are placed on a wooden table in the foreground, along with a flask and a computer monitor displaying data. A semi-transparent DNA double helix is depicted connecting the books. On the right side of the image, text reads: "New Podcast Episode" in small font beside a blue dot, followed by the large text "Biocuration: from Evidence to Classification." Below, smaller text says "Variants and Us (VUS) Podcast."
🎧 New Episode! 🧬 "Biocuration: From Evidence to Classification" Interviews w/ @heidirehm.bsky.social @broadinstitute.org & Courtney Thaxton #ClinGen
#Genomics #Biocuration #SciencePodcast #PrecisionMedicine
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ClinGen #RASopathy VCEP updates ACMG/AMP variant guidelines, enhancing classification for dominant and recessive RASopathies with broader applications to rare disease genomics bit.ly/3H0AF7s #GIMO #VariantInterpretation #MAPK #Noonan #ACMG #AMP #GeneticDiagnosis #ClinGen
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2025 - ACMG Policy Statement with updated list of 84 genes (ACMG SF v3.3) #RareDisease #Genetics #ACMG #ClinGen #SecondaryFindings search.clinicalgenome.org/kb/genes/acm...
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From #OUP 's #DATABASE journal | VarGuideAtlas: a repository of variant interpretation guidelines | #OpenScience #Bioinformatics #Genomics #ClinVar #ClinGen
🧬 🖥️ 🧪 🔓
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academic.oup.com/database/art...
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Updated ACMG/AMP Specifications for Variant Interpretation and Gene Curations from the ClinGen RASopathy Expert Panels #RareDisease #Genetics #ACMG #ClinGen www.gimopen.org/article/S294...
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The ClinGen Syndromic Disorders Gene Curation Expert Panel: Assessing the Clinical Validity of 111 Gene-Disease Relationships #RareDisease #Genetics #ClinGen www.gimopen.org/article/S294...
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Calibration of additional computational tools expands ClinGen recommendation options for variant classification with PP3/BP4 criteria #RareDisease #Genetics #ACMG #ClinGen www.sciencedirect.com/science/arti...
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