ClinGen @ClinGenResource
Sharing Data. Building Knowledge. Improving Care. NIH-funded resource established in 2013. clinicalgenome.org Joined May 2013-
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Now available! Generating Clinical-Grade Gene–Disease Validity Classifications Through the ClinGen Data Platforms | Annual Reviews - go.shr.lc/49VpGox
@ClinGenResource's patient registry, GenomeConnect, is at Virginia State Genetics Education Conference #VAAGC. Stop by our booth today to learn more about engaging patients in data sharing. #GCChat #Genetics #DataSharing.
National #DNADay24 is a global movement to encourage students, teachers, and the public to learn more about genetics and genomics. The National Human Genome Research Institute has a wealth of resources from education, to activities, to events: genome.gov/dna-day. #GCChat
Are you a clinical expert with knowledge on your institution's data sharing practices? The GA4GH Clinical Data Sharing and Consent team is conducting a study on current clinical data sharing policies and practices. Share your insights and feedback: bit.ly/4aP9Ts5
Stay up to date! ClinGen's latest quarterly update is now available - clinicalgenome.org/site/assets/fi…
The ClinGen Intellectual Disability and Autism Gene Curation Expert Panel is looking for a new chair. If you are interested, or know someone who would be interested, learn more and complete this survey by May 1 forms.gle/mEKdiJ7VGRABz7…
Curating the Clinical Genome 2024 is fast approaching. Today is the deadline to book a discounted hotel room in the meeting hotel. Visit the meeting page for the full program and registration/housing information clinicalgenome.org/about/events/c…
ClinGen and GA4GH are excited to announce the formation of the Clinical Genomics Laboratory Community. Do you work in a clinical genomics laboratory, or develop platforms or databases that support these laboratories? We'd love to hear from you ga4gh.org/community/clin…
ClinGen and GA4GH are excited to announce the formation of the Clinical Genomics Laboratory Community. Do you work in a clinical genomics laboratory, or develop platforms or databases that support these laboratories? We'd love to hear from you ga4gh.org/community/clin…
Do you work in a clinical genomics laboratory, or develop platforms or databases that support these laboratories? GA4GH and ClinGen are pleased to announce the formation of the Clinical Genomics Laboratory Community. Learn more and get involved: bit.ly/3Q6hryH
GenomeConnect will be hosting a few webinars. On 4/25 at 7pm ET, we discussed "How to Read a Genetic Testing Report." On 6/25 at 3pm ET learn about how GenomeConnect and The National Brain Registry work together. Register here bit.ly/3TGCEAr.
The CCDS variant curation expert panel just published in Molecular Genetics and Metabolism journal. Check out this link to learn more and get free access to the full paper until April 24. authors.elsevier.com/c/1iiuu3vNNNmz… @SIMDtweets @ClinGenResource
Learn more about Funding Opportunity (PAR-23-199): U24 ClinGen Genomic Curation Expert Panels, applications due May 25! grants.nih.gov/grants/guide/p…
Don't miss out! The Curating the Clinical Genome 2024 early bird registration deadline is coming up April 2nd clinicalgenome.org/about/events/c…
March is National Kidney Month. On average 1 in 9 individuals may be affected by kidney disease. @ClinGenResource's Kidney Disease Clinical Domain Working Group has 7 expert panels working to better understand genes and kidney health: bit.ly/48QnSgn. #datasharing
Last day to stop by @ClinGenResource booth 938 at #ACMGMtg24! Learn more about GenomeConnect, ClinGen’s Patient Registry, and how to engage patients in data sharing efforts. #GeneChat
Stop by @ClinGenResource booth 938 at #ACMGMtg24 to learn about GenomeConnect, ClinGen’s Patient Registry. GenomeConnect engages patients and works with other advocacy organizations to promote health and genetic data sharing. #genechat #Genetics
PAST Day - #MedicalGeneticsAwareness Week: Funded by the National Human Genome Research Institute in 2013, @ClinGenResource is dedicated to building an authoritative central resource that defines the clinical relevance of genes & variants. See graphic for accomplishments.
#ACMGMtg24 is kicking off strong with a workshop session where you can preview the next set of standards for sequence and copy number variant classification. The session will run from 4pm to 6pm in Room 801 AB this evening, Tuesday March 12. We hope to see you there!
Thank you to the GenomeConnect participants that are co-enrolled in the Brain Gene Registry. A @GIMJournal publication noted “A significant proportion of clinical variants that are novel or uncertain are not shared, limiting the evidence base for new gene-disease relationships.”
We're looking forward to getting so many members of the international ClinGen Resource community together in Toronto at #ACMGMtg24! Visit clinicalgenome.org/acmg2024/ to review our ClinGen-related posters and presentations at ACMG this year!
National Human Genome.. @genome_gov
81K Followers 447 Following Funding research at the forefront of genomics to improve human health. Formerly the Human Genome Project. https://t.co/4hdQRFkFNU
Genetic Counselors @GeneticCouns
15K Followers 641 Following National Society of Genetic Counselors (NSGC) is the leading voice, authority and advocate for the genetic counseling profession. RT does not equal endorsement.
Genetics in Medicine @GIMJournal
16K Followers 3K Following Genetics in Medicine, an official journal of @TheACMG Site use policy: https://t.co/gMGoSv2TJY. Cover Photo: Bridge over the Ure by Peter Freeman
Dena DNA @DenaTalksDNA
5K Followers 2K Following Genetic Counselor 🧬 & Content Creator 🤳🏽 spreading genetic awareness and making it more accessible to all 📲 -Dena Goldberg, MS, CGC #GeneChat #scicomm
Minority Genetic Prof.. @minoritygenetic
4K Followers 2K Following We are a space for racially & ethnically diverse professionals & students in genetics to connect & support increased access to services in minority communities.
Dr. Jehannine Austin @J9_Austin
6K Followers 1K Following Genetic Counselor, Professor. Ex-prez @geneticcouns, VP @ISPGnet they/them 🏳️🌈
A/Prof Jodie Ingles @jodieingles27
8K Followers 3K Following Head, Clinical Genomics Lab | Program Director, Genomics & Inherited Disease @GarvanInstitute | Cardiac Genetic Counsellor | Swiftie | Opinions my own
Muin J. Khoury @MuinJKhoury
4K Followers 389 Following Physician, Epidemiologist, Geneticist, Public Health Professional. Views are my own. Links≠ Endorsements
Naomi Wagner @Naomi_CGC
2K Followers 2K Following Ocular & rare disease genetic counselor 👁🧬 | @ShileyEye @UCSDHealth 🏥 | @BUMedicine & @pomonacollege 📚 | Opinions my own | she/her
Devin Shuman (she/her.. @DevinShuman
3K Followers 5K Following A genetic counselor with #MitochondrialDisease. @SmithCollege Alum, #mitoGC #disabledGC #GeneChat #AbortionIsHealthcare #RareDisease opinions are my own🏳️🌈
Benjamin Solomon @BenjaminSolomo2
2K Followers 828 Following Geneticist, Clinical Director @genome_gov Tweets/Opinions are my own Mastodon: @[email protected]
ACMG @TheACMG
19K Followers 4K Following American College of Medical Genetics and Genomics (ACMG): Translating Genes into Health® @GIMJournal #ACMGMtg24 #ACMGFoundation Site Use https://t.co/9QchBLtCEG
Leslie Ordal @GenCounsNews
4K Followers 3K Following Asst Program Director @boisegenetic / Genetic Counselor / psychiatric genetics / @Wellesley & @UofT alum / @greygenetics / 🇨🇦🇺🇸 / tweets my own
Genomics Education @genomicsedu
23K Followers 2K Following NHS England's Genomics Education Programme. Providing knowledge, skills and experience in #genomics #NHSgms #genomes100K #NHS #GenomicsConversation
Liz Mizerik, MS, CGC @lizmizerik
1K Followers 1K Following Sociologist. Inpatient Genetic Counselor. INFJ. SFASU. Houstonian. UNCG-GCP. Dog mom. True crime. Pro-Oxford comma. #Spoonie🦉Opinions = own. She/Her #GeneChat
Heidi Rehm @HeidiRehm
8K Followers 359 Following Genomic medicine researcher; chief genomics officer at MGH; clinical lab medical director at @broadinstitute; Tweets/views are my own.
Rachel Mills, MS, CGC @doublehelixTAT
2K Followers 548 Following I love genetics and I have the tattoo to prove it. certified genetic counselor, assistant professor, PhD pursuer, soapbox stander. she/her/y’all
Ryan Rodarmer, MS �.. @3rsCardioGC
844 Followers 942 Following Director @VEDSMovement, @MarfanFdn | Veteran Cardio GC | Type A #AorticDissection Survivor due to #HTAD | Opinions are my own. #AortaEd
Bryana Rivers @GcBry
836 Followers 830 Following Genetic Counselor 🧬 | Cardiovascular Genetics | Originally from PG County, Maryland #DMV
Elizabeth Fieg (she/h.. @ElizFiegCGC
1K Followers 1K Following Senior genetic counselor and program manager @BrighamWomens, Harvard Undiagnosed Diseases Network site coordinator, Gattaca understudy. Tweets are my own.
Mohamed Wafik @mo__wafik
22 Followers 437 Following 🧬 Clinical Geneticist in London | Paediatric focus | Innovating patient care through genomics | Views are my own 🇬🇧 🇪🇬🔬
K.L @KL33689966
1 Followers 37 Following
د. عبدالله ا.. @Abdullah_Med
1K Followers 584 Following استشاري الوراثة السريريه واضطرابات التمثيل الغذائي.حساب شخصي Clinical Genetics & Metabolic disorders Consultant, Married to the most amazing woman 🧬🎮
مصر الكنانة @miroislamic
467 Followers 3K Following
Audra Iness, MD, PhD,.. @AudraIness
335 Followers 832 Following Chief @BCM_Pediatrics Scientists, @SOCRAnow,@UTHealth_SBMI, @NPSCW_PedsPSTPs, Past President @A_P_S_A, @TheCribsiders, @MDAndersonNews, Cancer 🧬, Views own
Aaron Meyers @AaronMeyers_
79 Followers 150 Following PhD Candidate, Genomics and Molecular Epidemiology, Centre for Cancer Research, University of Melbourne
Denise @Denise12246898
11 Followers 345 Following
Genome Aggregation Da.. @gnomad_project
2K Followers 15 Following The world's largest open resource of human genetic variation. For help please use https://t.co/RYRjYJLrTQ; feature requests/bug reports to https://t.co/YUQGPHndSI
Canadian Association .. @PorphyriaCanada
96 Followers 607 Following Providing information and support to Canadians with porphyria and their families since 2014.
De Novo @DeNovo_AD
0 Followers 3 Following
Enea @Enea_Marc
65 Followers 276 Following
R. Wright @_underfoot
221K Followers 224K Following Manufacturing Engineering Ret., Texas Instruments Inc. , X Marine , Laser-guided Weapons developer, ancient weapons enthusiast and collector
Sajjad Naqvi @sajjadrazanaqvi
8 Followers 264 Following
Sidki Bouslama @BouslamaSidki
11 Followers 135 Following
Graham Lough @GrahamLo_Resp
32 Followers 316 Following Research scientist at Respiratory Effectiveness Group. Interest in RWE / genomics / risk / epidemiology / ILD and that sort of thing.
Martin Dubuc @dubucmar
572 Followers 295 Following Passionate about pioneering across #leadership, #innovation, #healthcare and #technology.
Amazing M ( Real Me) @AmazingM18
47 Followers 1K Following Be good, Do good ,Spread Love, Happinesses, and Positivity. Contribute to World Peace ☮️, Cancer Research. #Medcomms, Clinical Trials
Genome Tech Dev Coord.. @GenomeTDCC
323 Followers 320 Following Advancing innovation in genomic tech dev through collaboration and outreach. A partnership between @genome_gov & @jacksonlab
Christoph Hofmann @ChrlsHofmann
4 Followers 52 Following Clinician Scientist | Cardiac Genetics and RNA-Biology
Li Wang @liwangny
8 Followers 27 Following
Julie Parker @JulieParker144
21K Followers 16K Following Sales System Builder, Marketing & Social Media, Digital Gigster “You Are a CEO Movement“ Supporter. Watch this Video https://t.co/ezYvsMV5ol
Matt Krantz, MD @MattKrantzMD
550 Followers 1K Following Allergist/Immunologist | @VUMC_Medicine Post-Doc/MS Student | #Bioinformatics | #DrugAllergy | #AIMedEd | #GraphicMedicine | #CommuteByBike | Views my own
Tô Thị Thùy Ninh @ninh_to81710
11 Followers 12 Following
luis german @LG22
70 Followers 683 Following
Lunyin Yu @lunyin
160 Followers 857 Following
Nikki Trim @nix13001
34 Followers 321 Following Senior Clinical Scientist in Molecular Pathology with an interest in genomic medicine and a penchant for fancy dress parties.
MarkDLevinMD @marklevinmd
333 Followers 869 Following Pediatric cardiologist and physician-scientist studying #arrhythmia, #suddendeath #cardiomyopathy mechanisms @NHLBI @NIH intramural program.
Jenni Jonasson @JonassonJenni
1K Followers 1K Following
Jessica Priestley, MD.. @MommasaurusJess
569 Followers 604 Following Medical & Biochemical Geneticist. Invested in delivering high-value care to patients and families with rare disease. Momma bear and lover of 🍦🍷🧀
Himanshu Goel @GoelHimanshu97
0 Followers 28 Following
Elizabeth Wilson @Elizabe70608404
92 Followers 235 Following Clinical Nurse Specialist in Inherited Cardiac Conditons- King's Health Partners
EvolvingSapiens @EvolvingSapiens
0 Followers 26 Following
RUNNINGFORGOOD @RUNNINGFORCARE
4 Followers 90 Following key word: cancer, NGS report interpretation, clinical advice and cancer community.
Borh777 @borh7777
0 Followers 413 Following
4et6Dqk7J @Dqk7J
19 Followers 213 Following
Anantha Korrapati @AKorrapati18
46 Followers 282 Following NIH IRTA Fellow | Neuroscience | Genetics | Health Policy | Environmental Health | Incoming Student at UAB Heersink School of Medicine 🐉
KR @mksk99_
0 Followers 366 Following
Lynn Pais @LynnPais
75 Followers 42 Following Rare Disease Genomics and Genetic Counseling. Analyst at the Broad Institute of MIT and Harvard.
ATCG0412 @atcg041284447
25 Followers 35 Following
Nenrry Rodriguez @NenrryRodriguez
44 Followers 89 Following
Hypersonic @gohypersonic
442 Followers 2K Following We are an advertising agency in Milwaukee, WI. Our team helps companies go faster and further with innovative technology and human creativity.
Núria @nurq_q
1K Followers 1K Following Mare d'un fill autista, defensora dels drets dels discapacitats i de tothom en general. "viu i deixa viure”.
Kelly Estilette @kelly_estilette
55 Followers 500 Following Tulane School of Public Health and Tropical Medicine DrPH student, Research Scholar, Genomicist 🔬🧬Public Health Equity, Policy. Pic by KRE views are my own
GenomeKey @GenomeKey
43 Followers 314 Following GenomeKey is a biotech start up & we want to revolutionise diagnostics so no one dies from treatable infections. AMR, AI, Sequencing, Infectious Disease.
National Human Genome.. @genome_gov
81K Followers 447 Following Funding research at the forefront of genomics to improve human health. Formerly the Human Genome Project. https://t.co/4hdQRFkFNU
Genetic Counselors @GeneticCouns
15K Followers 641 Following National Society of Genetic Counselors (NSGC) is the leading voice, authority and advocate for the genetic counseling profession. RT does not equal endorsement.
Genetics in Medicine @GIMJournal
16K Followers 3K Following Genetics in Medicine, an official journal of @TheACMG Site use policy: https://t.co/gMGoSv2TJY. Cover Photo: Bridge over the Ure by Peter Freeman
Minority Genetic Prof.. @minoritygenetic
4K Followers 2K Following We are a space for racially & ethnically diverse professionals & students in genetics to connect & support increased access to services in minority communities.
ACMG @TheACMG
19K Followers 4K Following American College of Medical Genetics and Genomics (ACMG): Translating Genes into Health® @GIMJournal #ACMGMtg24 #ACMGFoundation Site Use https://t.co/9QchBLtCEG
Eric Green @NHGRI_Director
13K Followers 4 Following @Genome_gov Director. Genomicist. St. Louis Cardinals fan. He/Him/His NHGRI privacy policy: https://t.co/zVJz7zRkLX
Genomics Education @genomicsedu
23K Followers 2K Following NHS England's Genomics Education Programme. Providing knowledge, skills and experience in #genomics #NHSgms #genomes100K #NHS #GenomicsConversation
Heidi Rehm @HeidiRehm
8K Followers 359 Following Genomic medicine researcher; chief genomics officer at MGH; clinical lab medical director at @broadinstitute; Tweets/views are my own.
ASHG @GeneticsSociety
52K Followers 323 Following The American Society of Human Genetics (ASHG) is the world's largest professional membership organization for human genetics & genomics specialists.
The DECIPHER Project @deciphergenomic
2K Followers 107 Following Enabling #matchmaking and interpretation of phenotype-linked pathogenic genetic variation in patients with #raredisease by effective #datasharing.
Sharon Plon @splon
3K Followers 299 Following Medical Geneticist, ClinGen investigator, researcher and Asst Dean at Baylor College of Medicine. Opinions my own.
Ensembl @ensembl
29K Followers 248 Following Ensembl Genome Browser offers open access integrated genome, gene, variation, gene regulation and comparative genomics data on a web browser platform, plus APIs
Rare Disease Day @rarediseaseday
44K Followers 3K Following 29 February 2024 is Rare Disease Day. Raising awareness for patients, families and carers around the world that are affected by rare diseases. #RareDiseaseDay
DNA Today: A Genetics.. @DNATodayPodcast
4K Followers 5K Following Best Science & Medicine #Podcast Award Winner 🧬 • #GeneticCounselor @KiraDineen Interviews #Genetic Experts • #DNA #Scicomm #GeneChat
Genomics England @GenomicsEngland
30K Followers 2K Following We’re working to enable faster and deeper genomic research, to bring genomic healthcare to all who need it.
Cancer Genomics Conso.. @CG_Consortium
2K Followers 3K Following The CGC represents clinical cytogeneticists, molecular geneticists, and molecular pathologists to promote best practices & education in clinical cancer genomics
Monarch Initiative @MonarchInit
1K Followers 384 Following LinkedIn: https://t.co/UUxTUQV0Q6 Semantically curating genotype-phenotype knowledge #OpenScience #Collaborative #Data
International Common .. @ICDAbio
2K Followers 80 Following ICDA aims to improve prevention, diagnosis, and treatment of common diseases by accelerating discovery from genetic maps to biological mechanisms to medicine
Human BioMolecular At.. @_hubmap
2K Followers 129 Following an NIH-funded consortium of scientists developing an open, global framework for comprehensively mapping the human body at a cellular resolution.
Center for the Multip.. @CEGS_CMAP
518 Followers 95 Following We are a Center of Excellence in Genome Sciences, developing technologies to assess the functional impact of variants in human genes.
Atlas of Variant Effe.. @varianteffects
1K Followers 106 Following Advancing the promise of the Human Genome Project by interpreting the landscape of human genetic variation. https://t.co/rn6DbRZNU8
RareDiseaseGenomicsRS.. @RareGenomicsRSA
786 Followers 403 Following "Until every African patient with a Rare Disease is diagnosed!" Research group at Stellenbosch University, directed by Prof Shahida Moosa @shahida_moosa
Human Genetics UCT �.. @HumGen_UCT
321 Followers 252 Following Official Account for the Division of Human Genetics, University of Cape Town, South Africa #genetics #genomics #rarediseases #research #Africa
Human Genetics Societ.. @HGSAAustralasia
741 Followers 277 Following Peak organisation in the disciplines of human genetics and genetic and genomic medicine, advocating for all aspects in the field.
Southern African soci.. @SAHumanGenetics
425 Followers 101 Following A multidisciplinary, non-discriminatory society whose mission is to advance human genetics science practice in Southern Africa.
LatinGenomes @LatinGenomes
283 Followers 1 Following We are the Latin American Alliance for Genomic Diversity. Our aim is to design and implement a network of cohorts and biobanks in the region.
European Society of H.. @eshgsociety
6K Followers 957 Following
AfricanSocHumGenet @AfSHGenetics
615 Followers 19 Following The African Society of Human Genetics is a forum for scientists worldwide interested in Human Genetics in Africa to meet, interact, network and collaborate
African Rare Diseases.. @ARDI_Africa
252 Followers 330 Following We are committed to advancing diagnostic and care for rare diseases in Africa and in the world through research and advocacy.
Pac Sym Biocomputing @PacSymBiocomp
905 Followers 16 Following Pacific Symposium on Biocomputing (PSB) is an international conference. Researchers exchange their results and address open issues in computational biology.
GlobalBiodata @globalbiodata
732 Followers 97 Following The Global Biodata Coalition convenes the world’s life science research funders to address the challenge of sustainable funding for biodata resources globally.
Genome Aggregation Da.. @gnomad_project
2K Followers 15 Following The world's largest open resource of human genetic variation. For help please use https://t.co/RYRjYJLrTQ; feature requests/bug reports to https://t.co/YUQGPHndSI
ICHG 2023 Cape Town @ICHG2023
1K Followers 113 Following The 14th International Congress of Human Genetics will take place from 22 to 26 February 2023 in Cape Town, South Africa.
Medical Genome Initia.. @medical_genome
561 Followers 65 Following A consortium of clinical labs and research organizations with a mission to expand access to clinical whole genome sequencing for diagnosis of genetic disease.
IPNA Ped Nephrology @IPNA_PedNeph
4K Followers 665 Following Our mission is to lead the global efforts to enhance the care for all children with kidney disease through advocacy, education, training and research.
IHCC @IHCCGlobal
246 Followers 90 Following International Health Cohorts Consortium Linking cohorts, understanding biology, improving health. Affiliate of G2MC (@GlobalGenMed). Part of GGMC
Aimé Lumaka @aimelumaka
367 Followers 444 Following MD, PhD. Professor of Genetics @ University of Kinshasa, DR Congo PI of the African Rare Diseases Initiative (ARDI) Director Réseau National Maladies Rares, DRC
GREGoR Consortium @GREGoR_research
807 Followers 441 Following Discovering causes of rare disease through innovative technology and vigorous collaboration. @NIH-funded. Tweets by Data Coordinating Center @UWBiostat.
ELSIhub | CERA @ELSIhub
922 Followers 843 Following https://t.co/ug2ahmuNnd is an online hub supporting work in #ELSI of #genetics & #genomics. Home of #ELSIFridayForum, #ELSIconversations, ELSIhub Collections, & TraineeHub.
Vence L. Bonham Jr. J.. @VenceBonham
763 Followers 88 Following NHGRI Acting Deputy Director, Researcher at NHGRI Intramural Research Program & Head, Health Disparities Unit @genome_gov. Views=Own. R/T≠Endorsement. He/His.
J Mol Diagnostics @JMDiagn
3K Followers 364 Following The official publication of the Association for Molecular Pathology @AMPath, co-owned by the American Society for Investigative Pathology @ASIPath.
Stanford ClinGen @StanfordClinGen
64 Followers 113 Following Member of @StanfordDBDS Genomic Curation & Knowledge (Gecko) team. Developing gene & variant curation resources for @ClinGenResource.
GOLDENDNA @GOLDENDNA2
474 Followers 48 Following GOLDEN seeks to inform Black students about the career of genetic counseling and engage and support prospective Black genetic counselors
Human Heredity and He.. @H3Africa
4K Followers 213 Following Facilitates research and develops resources, training and guidelines to support a sustainable African research enterprise.| @NIH, @WellcomeTrust, @SciforAfrica.
PharmGKB @pharmgkb
2K Followers 79 Following PharmGKB's aim is to aid researchers in understanding how genetic variation among individuals contributes to differences in reactions to drugs.
UC Santa Cruz Genomic.. @ucscgenomics
6K Followers 5K Following Unlocking the world's genomic data to accelerate medical and scientific breakthroughs. We're also on 🐘 and 🧵! @UCSCgenomics
Chief Officer for Sci.. @NIH_COSWD
3K Followers 278 Following Official account of NIH/SWD -NIH’s leader to diversify national scientific workforce & expand recruitment & retention. Privacy Policy: https://t.co/toeVG6p3Jz
RASopathies Network @RASopathiesnet
1K Followers 1K Following A 501.c.3 organization; Our mission is to advance research of the #RASopathies by bringing together families, clinicians & scientists. #rarediseases
David H Ledbetter (he.. @dhledbetter
1K Followers 304 Following Genomics & Precision Medicine expert, autism and neurodevelopmental disorders, healthcare executive and consultant
PanelApp @PanelAppTeam
1K Followers 290 Following Genomics England PanelApp - a crowdsourcing tool to allow gene panels to be shared, downloaded, viewed and evaluated by the scientific community
Orphanet @Orphanet
6K Followers 625 Following The reference portal and knowledge base for information on rare diseases and orphan drugs. Orphanet nomenclature, ORPHA codes, Orphanet RD Ontology @inserm
National Coordinating.. @NCCRCG
1K Followers 1K Following Join us for the 5th Annual Public Health Genetics and Genomics Week from May 20-24. #PHGW #PublicHealthGenetics #PublicHealthGenomics Retweet/likes≠endorsement
EMBL-EBI @emblebi
74K Followers 598 Following EMBL-EBI provides open biological data resources and tools, and performs basic research in computational biology. https://t.co/ax5VumVAyg
U.S. FDA @US_FDA
563K Followers 145 Following Our posts are FDA Approved! Privacy Policy - https://t.co/LbTJXYRXVP FDA Authentic Accounts - https://t.co/w2LNbzG7M0
Broad Clinical Labs @BroadGenomics
9K Followers 600 Following Official X account of Broad Clinical Labs at the Broad Institute. Interested in our services? Visit our website. Retweets ≠ endorsements.
Creatine Info @CreatineInfo
353 Followers 123 Following A NonProfit dedicated to the three major Creatine Deficiency Syndromes- AGAT, GAMT, and CTD
Are you interested in the latest and greatest in Implementation of Pharmacogenomics? Register now for the ClinPGx/CPIC meeting. 5 days until early registration closes. #pharmacogenetics #PGx @cpicpgx @pharmgkb @ClinGenResource
5 days left for early registration to the CPIC meeting (now being called ClinPGx 2024)! eventbrite.com/e/clinpgx-2024… Also, book your hotel through upenn.app.box.com/s/bodll2c8v21r…
The UDN is hosting a virtual educational course titled “Evaluation of Undiagnosed and Rare Conditions”. This training program aims to teach methods of undiagnosed patient evaluation to students, clinicians, and researchers. Register for the course here: tinyurl.com/yckeupmh
Since it was funded by NHGRI (@genome_gov) in 2021, GREGoR researchers have been busy collaborating and using novel approaches to identify and understand rare and undiagnosed genetic diseases🧬#DNADay #Genomics Check out a list of publications so far: gregorconsortium.org/publications/v…
National #DNADay24 is a global movement to encourage students, teachers, and the public to learn more about genetics and genomics. The National Human Genome Research Institute has a wealth of resources from education, to activities, to events: genome.gov/dna-day. #GCChat
The collective efforts of scientists and physicians from the Atlas of Variant Effects (@varianteffects), NHGRI GREGoR (@GREGoR_research), NHGRI ClinGen (@ClinGenResource), NHGRI IGVF (@IGVFConsortium ), and All of Us (@AllofUsResearch) brought this project to fruition. (22/25)
#ClinVar's monthly data release is now available: bit.ly/3POc5bq
GenomeConnect will be hosting a few webinars. On 4/25 at 7pm ET, we discussed "How to Read a Genetic Testing Report." On 6/25 at 3pm ET learn about how GenomeConnect and The National Brain Registry work together. Register here bit.ly/3TGCEAr.
ClinVar now supports the classifications of somatic variants. We encourage you to contribute your somatic data using our new and improved submission template! Learn more: ow.ly/Pi5L50QSPGU
March is National Kidney Month. On average 1 in 9 individuals may be affected by kidney disease. @ClinGenResource's Kidney Disease Clinical Domain Working Group has 7 expert panels working to better understand genes and kidney health: bit.ly/48QnSgn. #datasharing
First #acmg24 ! Learn a lot from geneticists and scientists. Good to see my conference buddy from @ClinGenResource @AliciaBByrne - Systematic review of kidney panel diagnostic yield show 40% positive rate !! - In UDN, adult with kidney disease has the highest diagnostic yield
Also at 3:30 at #ACMGMtg24: “Somatic Cancer Variant Guidelines, Curation Models and Databases - A Decade of Development” in MTCC Rm 714/16. #cancergenetics @NCBI_Clinical @ClinGenResource @AMPath @Pathologists @ASCO
PAST Day - #MedicalGeneticsAwareness Week: Funded by the National Human Genome Research Institute in 2013, @ClinGenResource is dedicated to building an authoritative central resource that defines the clinical relevance of genes & variants. See graphic for accomplishments.
This week while our team is at #acmgmtg24 we will be celebrating the contributions of the entire #Genetics team to better #PatientCare and #PublicHealth! #MedicalGeneticsAwareness #gcchat #laboratorygenetics
ACMG congratulates Melissa Kelly, MS, CGC of @GeisingerRsrch #MyCode Genomic Screening & Counseling Program as recipient of the 2024 #ACMGFoundation Carolyn Mills Lovell Genetic Counselor Award. bit.ly/42F4DV3 #ACMGMtg24 @MelissaKellyCGC @ClinGenResource @BrandeisGCProg
“ACMG/AMP/CAP/ClinGen Standards for Sequence & Copy Number Variant Classification” – at 4 PM today at #ACMGMtg24. Preview of the next set of standards. Attendees may provide feedback on the draft frameworks. Join us in MTCC Rm 801 AB. @ClinGenResource @AMPath @Pathologists
Get ready for #ACMGMtg24 in Toronto, March 12-16! Visit NCBI staff at Booth #948 to learn about MedGen, Genetic Testing Registry (GTR), ClinVar, Medical Genetics Summaries (MGS) and more! View our schedule of events: ow.ly/50BG50QI0aQ
The National Library of Medicine launched a new effort to document the organizations, programs, and advocacy efforts as part of a new Rare Diseases web archive. Read more about this effort and resources in today's Circulating Now post. loom.ly/EXIhMcc #RareDiseaseDay
Get ready for #TAGC24! We are excited for our hands-on workshop on Saturday, March 9, "Exploring and Downloading NCBI Data with NCBI Datasets." #NCBICGR Training materials here: ow.ly/kpvl50QILQq NCBI conference schedule: ow.ly/FT2950QILQs
This year's celebration of the #RareDiseaseDay includes the inauguration of the brand new Reference Center for Rare and Unduagnosed Diseases at the University hospitals of Kinshasa. Funding from the @WilhelmFound and the @genome_gov
GenomeConnect will be hosting a few webinars. On 2/28 at 7pm ET, we will discuss the Importance of Individuals Sharing Health and Genomic Data. Register using this google form (lnkd.in/e3JxV4Bn) or email [email protected]. #DataSharing #genetics #Genechat
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