Human Genetics and Genomics Advances @HGGAdvances
ASHG #OA Journal; EiC Mike Bamshad cell.com/hgg-advances/h… Joined July 2019-
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Complete loss of TP53 and RB1 is associated with complex genome and low immune infiltrate in pleomorphic rhabdomyosarcoma. Read the full article by Hannah C. Beird @genesntexas & others in @HGGAdvances #AAI2024 hubs.ly/Q02vSsxX0
You won't want to miss this talk from one of our excellent Associate Editors!
You won't want to miss this talk from one of our excellent Associate Editors!
📢New from Wahbeh et al. 📰A Functional #Schizophrenia-associated genetic variant near the TSNARE1 and ADGRB1 genes 👉bit.ly/3QyAGkL
To gain new insights into Lynch Syndrome genetics, the latest @HGGAdvances article analyzes the pathogenicity of PMS2 variants that contain alterations in their Kozak sequences: cell.com/hgg-advances/f… @HollyStessman #ASHG
The #DNADay24 celebrations continue! 🧬Join our live Reddit panel to ask members of our Public Education and Awareness Committee questions about genetics and the environment. This all day event is FREE and open to all; be a part of the conversation: redd.it/1cicrl6 #ASHG
Don't forget to register for our next journal club!
Don't forget to register for our next journal club!
Evaluating and improving health equity and fairness of polygenic scores hubs.li/Q02vwRxZ0 @HGGAdvances paper hand-picked by our editors @RoederKat et al. @GeneticsSociety
The #ASHG24 deadline is approaching! 📣 the ASHG family of journals (AJHG and HGGA) will send for peer review all manuscripts that report the findings presented by ASHG members in a plenary or platform talk at ASHG 2024.
The #ASHG24 deadline is approaching! 📣 the ASHG family of journals (AJHG and HGGA) will send for peer review all manuscripts that report the findings presented by ASHG members in a plenary or platform talk at ASHG 2024.
Hear from @HGGAdvances Deputy Editor Jessica Chong and enjoy a selection of papers hand-picked by our editors: hubs.li/Q02vG3pk0 @GeneticsSociety’s #OA journal publishing across the complete spectrum of #humangenetics and #genomics research
📢New from @alexbolze @AurelieCobat & colleagues 📰Lack of association between classical HLA genes and asymptomatic #SARSCoV2 infection 👉bit.ly/3QoDj8V
Today at 3pm ET: @genome_gov National DNA Day Lecture: Do People Really Know What DNA Is? with @joepalca Learn more: genome.gov/event-calendar…
MUSK loss-of-function variants lead to highly variable clinical severity, from fetal loss to adult-onset weakness. @ben_cocanougher et al. develop a protein domain-based logic to explain variable disease onset: cell.com/hgg-advances/f… @HGGAdvances #ASHG
Happy National DNA Day! Today, we celebrate all of the impressive genetics and genomics advances throughout history, including the discovery of DNA’s double-helical structure in 1953 and the completion of the Human Genome Project in 2003.
🧬April 25th is DNA Day!🧬 @GREGoR_research Consortium (Genomics Research to Elucidate the Genetics of Rare diseases) seeks to develop and apply approaches to discover the cause of currently unexplained rare genetic disorders Learn more on our website: gregorconsortium.org
Today is National #DNAday24! Check out how much you need to know about DNA and #genomics to make informed decisions about your life and health. cdc.gov/genomics/event…
Spent the afternoon in lovely DC advocating for @NIH @NIHFunding on the Hill with @GeneticsSociety. Great experience, esp shared w/ past (Brendan Lee), current (Bruce Gelb) and future (@SarahTishkoff) ASHG presidents!
📢 New from Costain & colleagues 📰 A systematic assessment of the impact of rare canonical splice site variants on splicing using functional and in silico methods 👉bit.ly/3QdM2KX
Tianyu Zhang, PhD joins the @HGGAdvances May 8 Journal Club webinar to discuss a new polygenic score framework and its potential benefit for underrepresented populations. Register now: learning.ashg.org/products/evalu… #ASHG #HumanGenetics
Exploring the connectivity of genetics, epidemiology, and environmental factors, Farren Briggs, PhD, ScM, shares insights into the significance of fostering diversity and inclusion in science. Listen to the full episode now: learning.ashg.org/p/season-three… #ASHG #HumanGenetics
📢New from @HollyStessman & colleagues 📰In vitro data suggest a role for PMS2 Kozak sequence mutations in Lynch Syndrome risk 👉bit.ly/3Jx2EJS
National Human Genome.. @genome_gov
81K Followers 446 Following Funding research at the forefront of genomics to improve human health. Formerly the Human Genome Project. https://t.co/4hdQRFkFNU
Veera Rajagopal @doctorveera
17K Followers 4K Following MBBS, MD, PhD | GWAS storyteller | Scientist at Regeneron | Human genetics & drug discovery in Neuroscience & Psychiatry | He/Him
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.
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 by Robin L. Bennett
Cell Press @CellPressNews
152K Followers 1K Following Cell Press partners with scientists across all disciplines to publish and share work that will inspire future directions in research. #ScienceThatInspires
Abdel Abdellaoui @dr_appie
9K Followers 2K Following Complex Trait Genetics | Population Genetics | Evolutionary Genetics | @AmsterdamUMC | @UvA_Amsterdam
Clement Chow @ClementYChow
17K Followers 5K Following henfluencer - geriatric millennial - #stopasianhate - don’t call me Clem - emotional eater™️- he/him- @chowlab
Danny E. Miller MD Ph.. @danrdanny
2K Followers 663 Following No longer using Twitter: find me on bsky at danrdanny or linkedin (link at lab website)
Benjamin Solomon @BenjaminSolomo2
2K Followers 828 Following Geneticist, Clinical Director @genome_gov Tweets/Opinions are my own Mastodon: @[email protected]
Elfride De Baere @elfridedebaere
2K Followers 3K Following Rare eye & developmental diseases, IRD, non-coding genome, multi-omics, treatments. @ProgRET_MSCA coordinator https://t.co/ttWQw549Sf @RAREMED1 @FWOVlaanderen
European Journal of H.. @ejhg_journal
8K Followers 7K Following The official journal of the European Society of Human Genetics, providing insights into human genetics, genomics, molecular, clinical and cytogenetics research
Josh Denny @AllofUsCEO
3K Followers 401 Following Official account of the @NIH @AllofUsResearch Program CEO Josh Denny. Dad 👨👧👦 | doctor 🩺 | data nerd 📈 Privacy Policy: https://t.co/TEc9JQ8bXR
Claudia Gonzaga-Jaure.. @cgonzagaj
2K Followers 815 Following Human Geneticist/Genomicist working on Mendelian & rare genetic disorders to enable Precision Medicine. Tweets/opinions are my own. 🇲🇽 @cgonzagaj 🐦🦣☁️🧵
Jessica Chong @jxchong
2K Followers 2K Following @[email protected],https://t.co/VQyyqpMf93. Assistant Professor. UW Center for Rare Disease Research, @MyGene2, Deputy Editor of @HGGAdvances. #raredisease genetics
Dr. Heather Mefford @hcmefford
3K Followers 948 Following Physician, scientist, mom, wife #genetics #epilepsy #pediatrics #raredisease @StJude @StJudeResearch formerly @UWMedicine
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.
James Fasham @JamesFasham
3K Followers 3K Following 🧬👨⚕️Genetics doctor & PhD 💻 💬 Social media: @ESHGsociety @JMG_BMJ and @BritSocGenMed. 🤖 @DiseaseGenes bot creator (#Genetics #Genomics #RareDisease)
Christine R. Beck @christinerbeck
1K Followers 771 Following Assistant Professor at The Jackson Laboratory of Genomic Medicine and the University of Connecticut Health Center Views are my own @christinebeck.bsky.social
Christel Depienne @ChristelDepienn
961 Followers 843 Following Molecular geneticist | Neurogenetics | repeat expansions | chromosome X | French expat 🇫🇷🇩🇪🇪🇺| Mum of 2
Mohamed Wafik @mo__wafik
41 Followers 546 Following 🧬 Clinical Geneticist in London | Paediatric focus | Innovating patient care through genomics | Views are my own 🇬🇧 🇪🇬🔬
Yousef Salama @salamay840
10 Followers 211 Following Co-founder @ Repogen. Stem Cells. AI hospital. healthcare AI. Cancer Genomics. software. Aging. MedTech. Omics. Regenerative medicine
Miranda The Los Angel.. @phearlissdream2
140 Followers 2K Following #UCLA Grad • Future #MBA Grad •❤️’s #film #television , #finance , #law , #losangeles & #marketing my hometown ✊🏾 • Views are mine = forever in love with LA🥰
spinach @spinach1929
16 Followers 43 Following
Eric Mercer @EricMercer20
380 Followers 3K Following Professor of useless knowledge and fan of Hip-Hop, Classic movies, music and literature. Wu-Tang is for the Children!
you know who i am @suhzekial
41 Followers 246 Following
GEN Z ATHEIST @genzatheist
87 Followers 158 Following Humanist. Atheist. Gods Memes. Secularist. Pro-LGBTQ rights. Disclaimer: Tweets may offend jesus.
Bobbie Hearts @HeartsBobbie
0 Followers 8 Following
Sachin @Smrathod_23
2 Followers 93 Following
Juan Manuel Maison Ba.. @jumaba7
20 Followers 419 Following
Dan Ilg, MS, CGC 🧬.. @dilgGC
691 Followers 866 Following Genetics & genomics have, and will continue to revolutionize medicine 🌞💕 he/him 🏳️🌈 All views/opinions expressed are strictly my own.
Leila Jamal @jamalenator
1K Followers 1K Following Genetic Counselor + Bioethicist@National Cancer Institute. Educator, ethicist, and explorer. In Baltimore, MD.
Kim Zayhowski @KimZayhowski
762 Followers 626 Following Genetic Counselor and Assistant Professor 🧬 she/her 🏳️🌈 views are my own, follow does not mean endorsement
Graham Lough @GrahamLo_Resp
36 Followers 317 Following Research scientist at Respiratory Effectiveness Group. Interest in RWE / genomics / risk / epidemiology / ILD and that sort of thing.
Eva Fain research foc.. @eva3034385615
894 Followers 2K Following I am on twitter to find new research. I resent anyone attempting to use A I to upload my research. Happy to share information; just ask me..... I hate thieves
Michael Epp @Michael_A_Epp
13 Followers 388 Following Research technician in the Li lab at the Stowers Institute for Medical Research
LouPoon @PoonLou70478
16 Followers 697 Following
Emilio Galeazzi @gigigaleazzi
29 Followers 33 Following
Aşkın ŞEN @Askin_SEN
194 Followers 2K Following Assist. Prof., M.D., Medical Geneticist, Firat University Hospital, Medical Genetics Department
Nicolas I. Hagenau @gorelka2024
246 Followers 1K Following
Ayesha N Shaikh @AyeshaNShaikh
1K Followers 1K Following Incoming resident Peds/Genetics @WUSTL| MBBS Alum 2022 @Akuglobal| AI enthusiast | Music lover| Exploring the world one step at a time. #medicineandmore
Guy R @thatphysioguy
29 Followers 1K Following
Yaحya جahuن @Aljahuneey
3K Followers 786 Following Proud to be a Muslim👳🏾♂️, Alhamdulillah🤲🏾. A soul in search of Allah's love and mercy🙏🏾. Trusting Allah's plan for my life💯. #Islam #Qur'an #Sunnah
Jagan Allu @Jaganmohanallu
66 Followers 995 Following Freelance Biostatistician/ Consultant Data Scientist
Muddy Science Revolut.. @ScienceMuddy
490 Followers 547 Following Science. Tech. Politics. Non-partisan.
tianzhong @tianzho11476165
8 Followers 39 Following
Javeria Tehreem @JaveriaTehreem
5K Followers 5K Following Biotechnologist - Content Writer - Jobs Info - Scholarships Updates
Hanna Abe @abe_hanna
102 Followers 421 Following PhD Candidate in Human Genetics @VanderbiltU | Undergraduate@BereaCollege| 🇪🇹
İbrahim Fettahoğlu @ibrahimfettahh1
161 Followers 1K Following Ph.D. Student in Molecular Biology and Genetics
Riyadh | Health @Riyadh1Health
182 Followers 3K Following #secure in your property, #healthy body, & day #food, it is as if the whole world were brought to you. — Riyadh (on #X since 2008) Old clinic owner.
Sathish Kumar @mayantamilian
89 Followers 2K Following Genomist exploring the life through Molecular Biology|Sequence Data Analysis & Bioinformatics 💻|Scientific Illustration | Genomics Cloud Computing | Blender 3D
Jerry Lanchbury @JerryLanchbury
128 Followers 271 Following Human Geneticist/Scientist with interests in the past and the future
Japhet @geoojaph
301 Followers 3K Following
Melissa B Davis, PhD @MeliD32
2K Followers 2K Following Director, Institute of Translational Genomic Medicine and Professor @MSMEDU Scientific Director, @ICSBCS #Genomics #OncologicAnthropology
rahma okour @rahma_okour
1 Followers 57 Following
Volkan Okur @OkurVolkan13180
0 Followers 18 Following
Gurpreet Kaur, PhD (s.. @gurpreet_bioin4
176 Followers 806 Following #WomenInSTEM | #Mom | #Bioinformatics #Genomics #DataScientist 🖥🧬@UABgenetics #RareDiseases #RareCancer | #R #DataVisualization #NetBio | #FulbrightAlum
Maximilian Billmann @maxbillmann
262 Followers 1K Following Asst. Prof. @UniBonn @UniklinikBonn | dataScience, ML, funcGenomics, CRISPR screens | Postdoc @UMNComputerSci @DonnellyCentre | PhD @Michael_Boutros @DKFZ
Jaye Moors @kiei_m
72 Followers 164 Following New Account! Coffee ☕️ | Outdoors | Scientist | Research | Health | Genomics | Biology | Medicines | Industry | From 🇼🇸 based in 🇳🇿 | ViewsMyOwn 🏳️⚧️
Apocalyptic Wigger @apocalypticwig
1 Followers 789 Following
Hannah Moots 🏺🧬 @mootspoints
1K Followers 1K Following Postdoctoral Researcher @CpgSthlm in David Díez del Molino's group (she/her)
Rick @Rickcah11
2 Followers 53 Following
National Human Genome.. @genome_gov
81K Followers 446 Following Funding research at the forefront of genomics to improve human health. Formerly the Human Genome Project. https://t.co/4hdQRFkFNU
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
Veera Rajagopal @doctorveera
17K Followers 4K Following MBBS, MD, PhD | GWAS storyteller | Scientist at Regeneron | Human genetics & drug discovery in Neuroscience & Psychiatry | He/Him
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.
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 by Robin L. Bennett
Adam Phillippy @aphillippy
18K Followers 1K Following Goodbye Twitter 👋 You can now find me on bsky. I'll also try and post research updates more frequently on my lab homepage, linked below ⬇️
Muin J. Khoury @MuinJKhoury
4K Followers 389 Following Physician, Epidemiologist, Geneticist, Public Health Professional. Views are my own. Links≠ Endorsements
Eric Fauman @Eric_Fauman
6K Followers 247 Following GWAS whisperer 'Nothing in biology makes sense except in the light of evolution' -Dobzhansky DMs open Executive Director, Integrative Biology @Pfizer
Nicky Whiffin @nickywhiffin
4K Followers 759 Following Associate Prof & Henry Dale Fellow @bdi_oxford @HumanGeneticsOx | Computational Rare Disease Genomics | Non-coding | @StAnnesCollege | @nickywhiffin.bsky.social
Cecilia Lindgren @ceclindgren
8K Followers 1K Following Director of Oxford Big Data Institute. Proud mom of 3. Co-chair of @icdabio. Wellcome Trust Investigator. Promoting equality in academia. Love 🦈. #🕷🕸💙
Cell Press @CellPressNews
152K Followers 1K Following Cell Press partners with scientists across all disciplines to publish and share work that will inspire future directions in research. #ScienceThatInspires
Abdel Abdellaoui @dr_appie
9K Followers 2K Following Complex Trait Genetics | Population Genetics | Evolutionary Genetics | @AmsterdamUMC | @UvA_Amsterdam
Nature Genetics @NatureGenet
128K Followers 2K Following Nature Genetics is a monthly journal publishing high impact research in genetics and genomics. RT/like=interesting/relevant, not necessarily endorsement.
Nature Reviews Geneti.. @NatureRevGenet
92K Followers 224 Following Publishing reviews and commentaries across the fields of genetics and genomics. Part of @SpringerNature and @NaturePortfolio. Tweets are from the editors.
Sharon Plon @splon
3K Followers 299 Following Medical Geneticist, ClinGen investigator, researcher and Asst Dean at Baylor College of Medicine. Opinions my own.
Clement Chow @ClementYChow
17K Followers 5K Following henfluencer - geriatric millennial - #stopasianhate - don’t call me Clem - emotional eater™️- he/him- @chowlab
Chris Gunter @girlscientist
16K Followers 2K Following Geneticist & science communicator; she/her. Here rarely given new ownership’s policies, and in personal capacity. Tweets my own.
Michael Hoffman @mich.. @michaelhoffman
23K Followers 7K Following Chair, Comp Bio & Medicine Program, Princess Margaret Cancer Centre. Assoc Prof, Med Biophysics & Comp Sci, University of Toronto. COI https://t.co/CvupKNIjZr
Human Molecular Genet.. @hmg_journal
1K Followers 310 Following Human Molecular Genetics concentrates on full-length research papers covering a wide range of topics in all aspects of human molecular genetics.
Holly Stessman @HollyStessman
135 Followers 165 Following Assistant Professor of Pharmacology @ Creighton University Medical School. Geek. Netflix binger. Movie buff. Nature lover. Fearless home cook.
Kim Zayhowski @KimZayhowski
762 Followers 626 Following Genetic Counselor and Assistant Professor 🧬 she/her 🏳️🌈 views are my own, follow does not mean endorsement
Bratati Kahali @BratatiKahali
339 Followers 152 Following Human genetics, Mother, Computational genomics, Bioinformatics, Associate Professor, @CBR_IISc, bookworm
Melissa B Davis, PhD @MeliD32
2K Followers 2K Following Director, Institute of Translational Genomic Medicine and Professor @MSMEDU Scientific Director, @ICSBCS #Genomics #OncologicAnthropology
Kate Thomson @KLTJ
481 Followers 883 Following Clinical scientist. Inherited heart conditions and genetics/genomics in healthcare.
Doc Edge @DocEdge85
5K Followers 3K Following Assistant professor in quantitative and computational biology @USC. Genetics, evolution, and a bit of statistics.
Mike Inouye @minouye271
7K Followers 451 Following Computational biologist. Geriatric millennial. American Australian. Professor @Cambridge_Uni. Director of Data Sciences @BakerResearchAu. Director @CamBakerSGI.
Jamie Vandenberg @VandenbergJamie
541 Followers 208 Following
Chai Ng @ChaiAnn_Ng
172 Followers 147 Following Senior Staff scientist @victorchanginst, developing and calibrating high-throughput #automatedpatchclamp assays to assess VUS in ion channelopathies
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
Atlas of Variant Effe.. @varianteffects
1K Followers 107 Following Advancing the promise of the Human Genome Project by interpreting the landscape of human genetic variation. https://t.co/rn6DbRZNU8
Vered Raz @VeredRaz
4 Followers 14 Following Biomedical research: aging, adult myopathies, RNA processing. Teaching, education. Art: sculpting in stone, wood and glass. Enjoying kickbox and wine
Eleni Giannoulatou @egiannoulatou
422 Followers 436 Following Head of Computational Genomics Laboratory at @VictorChangInst Associate Professor at @UNSWMedicine
Diptavo Dutta @Diptavo
350 Followers 713 Following Investigator @NCIEpiTraining / Interested in Statistical Genetics, Genomics and Genetic Epidemiology/Tweets are my own
Alvaro Monteiro @AccidentalGenet
430 Followers 376 Following Molecular Genetics, Genetic Epidemiology, Cancer predisposition
Molly Przeworski @molly_przew
9K Followers 550 Following Evolutionary Geneticist, Columbia University
Mashaal Sohail @mashaals
2K Followers 1K Following Evolutionary and statistical geneticist. Associate Professor at @ccg_unam https://t.co/wqd7Ob88xb UNAM | U Chicago | Langebio | Harvard | MIT 🇵🇰🇺🇸🇲🇽🏳️🌈
Joseph G. Gleeson @jogleeson_ucsd
2K Followers 133 Following #UCSD Neurogeneticist studying origins and treatments of pediatric brain disease. CMO of #NLorem, and Neuroscience Director at #RCIGM
IGES @genepisociety
2K Followers 372 Following The International Genetic Epidemiology Society (IGES), a scientific society concerned with the study of genetic components in complex biological phenomena.
Kimberly Aldinger, Ph.. @kaaldinger
1K Followers 970 Following Assistant Professor @UW_Pediatrics | PI @seattlechildren | neurodevelopment | genomics | epilepsy | twin mom | rare disease mom | Co-Founder @mastgenes
🧬 Dr. Cassie Sprac.. @Cnspracklen
585 Followers 521 Following Assistant Professor of Epidemiology @ UMass | Genetic Epidemiology | women in STEM advocate | wine and coffee addict
Dr. Laura M. Huckins @LauraHuckins
2K Followers 1K Following Psychiatric geneticist, feminist, immigrant. Assoc. Prof. at Yale. Opinions are my own. 🇬🇧 🇺🇦 🏳️🌈 Pronouns she/her
Ghayda Mirzaa, MD @ghaydamirzaa
330 Followers 360 Following Pediatrician & neurogeneticist in Seattle. she/her ~ views my own~🧬🧠🏊♀️ 🏔🧗♂️🥾
Dr. Sarah Tishkoff @SarahTishkoff
4K Followers 333 Following Human Evolutionary Genomicist, Professor
Sharon A. Savage, M.D.. @SharonSavageMD
935 Followers 503 Following “If you want a seat at the table, you have to sit at the table,” scientist & heme-onc pediatrician 🧬🩸 Views are all mine 👩🏻🔬
Aaron Quinlan @aaronquinlan
17K Followers 1K Following Genome mutation, software for genomic discovery. https://t.co/6GKjALLFfk Co-director, DELPHI Data Science Init.: https://t.co/8uWRcIzWRr
Alice B. Popejoy, PhD @AlicePopejoy
1K Followers 1K Following Public Health Genetics PhD; Stat/Pop Gen. Computational evolutionary genomics and diversity. Ethical, legal, and social implications (ELSI). Black Lives Matter.
Anna Lewis @acflewis
592 Followers 200 Following Bioethicist working on ethical, legal, social issues (ELSI) of genomics, at Harvard's E J Safra Center for Ethics
John Novembre @jnovembre
7K Followers 1K Following Developing computational tools to understand genetic diversity. Professor @UChicago. Art: Eduardo Korba “Ellis Island” mural.
Siddhartha Kar @siddhartha_kar
1K Followers 919 Following group leader, Early Cancer Institute, University of Cambridge | UKRI future leaders fellow | cancer genetic epidemiology | https://t.co/p6uJFOaGov
Benedict Paten @BenedictPaten
3K Followers 417 Following Associate Professor at UCSC; Director, Computational Genomics Lab, UC Santa Cruz Genomics Institute
Tobias Marschall @tobiasmarschal
1K Followers 214 Following Algorithms, bioinformatics, genomics, and medical data science at @HHU_de / @MedHHU / @UniklinikDUS. Own views.
Gaurav Varshney @varshneylab
992 Followers 941 Following Interested in zebrafish, gene editing, and disease modeling. Opinions are my own and not the views of my employer.
David Beier @DavidBeier15
92 Followers 32 Following Mouse doctor, OG geneticist, Center Director at Seattle Children's Research Institute, Professor in Pediatrics at University of Washington SoM.
Reza Maroofian @RMaroofian
415 Followers 772 Following Geneticist at UCL Queen Square Institute of Neurology @UCLIoN. Interested in Rare Diseases, Neurogenetics & Genomic Medicine.
Lisa Bastarache @lisa_bastarache
599 Followers 412 Following I have come here to chew bubblegum and reduce diagnostic delay in Mendelian disease. And I’m all outta bubblegum.
SickKids Genetics & G.. @SK_GGB
33 Followers 46 Following Using innovative sequencing & disease modeling technologies, we aim to determine the role genes play in paediatric health. Account not monitored 24/7.
Janet Kelso @jfkelso
3K Followers 2K Following Genomics, bioinformatics, ancient DNA. 🇿🇦 Scientist at the Max Planck Institute for Evolutionary Anthropology in Leipzig.
Ninad Oak @ninadoak
910 Followers 307 Following Lead Bioinformatics Research Scientist @StJudeResearch | Pediatric Cancer Predisposition | Alumnus: @BCMHouston | Views are my own | Also cricket!
From the Labs at Bayl.. @BCMFromtheLabs
6K Followers 6K Following From the Labs at Baylor College of Medicine spotlights the newest and most interesting research information from the bench at the College.
Alexander Hoischen @ahoischen
2K Followers 608 Following Genomic technologies: WES/WGS, longreads, somatic mutations; Immuno-genomics: rare diseases; immunodeficiencies; inborn errors of immunity; clonal hematopoiesis
Peng Jin @pengjinATL
409 Followers 314 Following Interested in human genetics and neuroepigenetics. Just do it! Opinions are my own.
Nina B. Gold, MD @nbgmd
539 Followers 1K Following Medical and biochemical geneticist @MGHfC. Opinions my own.
Lot Snijders Blok @Lot_SB
615 Followers 2K Following MD PhD 👩⚕️👩🔬 | researcher & clinical geneticist 🧬 | cyclist 🚴🏼♀️
Ozvan Bocher @OzvanBocher
133 Followers 183 Following Post-Doctoral Fellow at ITG Helmholtz Munich | multi-omics analysis | WGS rare variantsNHGRI staff celebrated DNA Day at the 33rd Annual Rockville Science Day hosted by the Rockville Science Center at Montgomery College. The kids in attendance were able to practice their micro-pipetting skills to make art!
🏆 Congratulations to the winners of the #DNADay24 Essay Contest! Congratulations and Well done to our winners and honorable mentions! Read the winning essays here: ashg.org/dna-day/ #ASHG #HumanGenetics
AJHG is celebrating its 75th year with a series of bold predictions framing genetics and genomics for the future. Read the paper: hubs.li/Q02tLJf60 #AJHGat75 @AJHGNews @GeneticsSociety @he_yix @genetisaur @broadinstitute @MGHMedicine @DrRobWinn
You won't want to miss the next @HGGAdvances journal club featuring @sandrasoojinlee! Register NOW!
🔔 Attention genetics and genomics researchers! Join us on March 13 for an insightful @HGGAdvances webinar led by Sandra Soo-Jin Lee as we discuss the use of population descriptors in precision medicine research. Register now: learning.ashg.org/products/traci… #ASHG
See🤩 you at the light up of the Greater Accra Regional Hospital !!!!! 6pm GMT #RareDiseaseDay2024 #LightupforRare
As of Jan 1, I have been promoted to (full) Professor of BME @JHUBME! Thank you first to my students & lab members for amazing work. And mentors & collaborators. And the supportive colleagues & leadership across @JohnsHopkins @HopkinsEngineer, a great place to grow a career.
The February Journal Club registration is underway! We'll be focusing on "CRISPR activation to study splice-altering variants." Join @AJHGNews & guest speakers as they dive into this topic. Register Now! Deadline February 14: learning.ashg.org/p/February-Jou…
Drop the most iconic photo of you
Drop the most iconic photo of you (Best I could do 🙃)
It is really gratifying to work with our #GMWG in identifying the most significant advances in genomic medicine each year. There were many excellent 2023 studies to consider, reflecting the incredible efforts being made in using genomics to advance the practice of medicine.
The Genomic Medicine Working Group of NHGRI’s Advisory Council identified 2023’s most significant advances and accomplishments in genomic medicine. Their summary was just published in @AJHGNews! sciencedirect.com/science/articl… #GWMG
Last week’s #ASHG2023 meeting in Washington DC was truly wonderful – great science, great weather, and great fun! What a productive and spirited few days that showcased the amazing things happening in human genetics and genomics – and the outstanding people in the field!
Thanks to HGG Advances for giving us this award, but I want to stress how this study came about from a programmer relentlessly tracing down a QC anomaly that only impacted 0.1-0.3% of the data. All I did was to encourage it to grow into a paper! x.com/CharlestonCWKC…
🎉Congratulations @CharlestonCWKC 📰Inverted genomic regions between reference genome builds in humans impact imputation accuracy and decrease the power of association testing #ASHG23 cell.com/hgg-advances/f…
@CellPressNews @GeneticsSociety @AJHGNews @HGGAdvances Thank you @CellPressNews @GeneticsSociety @AJHGNews @HGGAdvances for interviewing me and making me a part of this group of amazing early career researchers article!
📢NEW @AJHGNews 📰Ethical considerations when co-analyzing ancient DNA and data from private genetic databases 🧑🤝🧑@EadaoinSays & colleagues 👇 rebrand.ly/cnik1c6
A little late on my part, but I'm excited to announce that I've joined the editorial board of Human Genetics and Genomics Advances @HGGAdvances! HGGAdvances is an excellent avenue to submit your exciting work! Send ur manuscripts in statistical and regulatory genetics my way!
This study would not have been possible without the hard work of @MastracciLab members @LRPadgett and Mollie, our collaborators @RoswellPark @HopkinsMedicine @NIDCR @Columbia and funding from @NIH @JDRF @CureDHPS @MDBRide4Rare
Interested in learning more? 💭 Hear from the speaker, Ruizhi (Vince) Duan, MS, in a recent edition of the Trainee Paper Spotlight: ashg.org/publications-n…
Big News🚨: #CZCellxGene Discover Census launched today! czi.co/3Nzpfsk Built from >500 datasets, Census gives you efficient access to the largest aggregation of #SingleCell RNA data that’s immediately ready for analysis with harmonized labels for cell and gene metadata
It's so exciting that our science is having immediate real world impact in the lives of those living with rare diseases! So proud of the @ChowLab for working so hard at this.
“This is the time for rare diseases. In the next ten years, I think you’ll see therapies rolling out left and right because it’s just been waiting for the technology to be there. I think we have all the tools. What’s lacking is the funding.” – Clement Chow go.nature.com/3JOQ5Jv
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