Kaitlin Samocha @ksamocha
Assistant Investigator @CGM_MGH. Focus on human genomics and modeling rare variation. She/her. You can find me on the other place with the same name. samochalab.org Joined August 2014-
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Last chance to register for our online course! All lectures will be online next week (and remain online for several months). You can use a chat to ask questions to lecturers. Only 50€ registration cost - for a world class line-up of speakers. eshg.org/bertinoro0-1
gnomAD 4.1 is now live! This release fixes the AN issue in #gnomAD v4.0 & adds 2 new functionalities: 1) Joint AN across all called sites in exomes and genomes 2) A flag indicating when exomes and genomes frequencies are highly discordant Learn more at broad.io/gnomad_v4-1
Alternative image suggested by Katherine Chao:
Alternative image suggested by Katherine Chao: https://t.co/jphAGAaWdI
We didn’t find strong evidence to support the hypothesis that common cis-eQTL-mediated gene expression modifies penetrance of rare coding variants in NDDs.
We used 3 multi-cis-eQTL models (UTMOST, PrediXcan, JTI), to compare predicted gene expression between transmitting parents and their undiagnosed children. We didn’t see any difference in cortex or blood between transmitting parents + their undiagnosed child.
Our paper “Investigating the role of cis-eQTLs in modifying the penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders” (NDDs) is out in Scientific Reports! Three interesting findings led to this study: nature.com/articles/s4159…
This is an excellent opportunity to work with a great researcher on an important problem!
This is an excellent opportunity to work with a great researcher on an important problem!
But finally to highlight that this region, despite being within a highly conserved exon is not covered in ‘whole’ exome sequencing (as it is a non-coding RNA). This is a clear example of the power of genome sequencing to uncover novel diagnoses for patients. 9/9
More on our thoughts on variant recurrence, analysis of RNA-sequencing data (which doesn’t show a clear signature), expression of RNU4-2 in brain through development, and analysis of de novo variants in other snRNAs, are all in the preprint. 8/9
Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in @GenomicsEngland ??? I didn’t initially either, but here is the story of RNU4-2 🧵1/9
Would you believe me if I told you that a single variant in a non-coding RNA explains ~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD) in @GenomicsEngland ??? I didn’t initially either, but here is the story of RNU4-2 🧵1/9
Veera Rajagopal @doctorveera
17K Followers 4K Following MBBS, MD, PhD | GWAS storyteller | Scientist at Regeneron | Human genetics & drug discovery in Neuroscience & Psychiatry | He/Him
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 🦈. #🕷🕸💙
Anshul Kundaje (anshu.. @anshulkundaje
22K Followers 2K Following Genomics, Machine Learning, Statistics, Big Data and Football (Soccer, GGMU). Post: @anshulkundaje, Threads: anshulkundaje
Pradeep Natarajan @pnatarajanmd
23K Followers 818 Following Dir of Preventive Cardiology @MassGeneralNews | Assoc Dir of Personalized Medicine @MassGenBrigham | Assoc Prof @harvardmed | Assoc Mem @broadinstitute
Ewan Birney @ewanbirney
50K Followers 2K Following Deputy Director General of EMBL, Director of EMBL-EBI. I have an insatiable love of biology. @[email protected]. I also work with ONT, Dovetail + GeL.
Eric Fauman @Eric_Fauman
6K Followers 246 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
Andrea ganna @andganna
3K Followers 605 Following Associate Prof in health data science @HiLIFE_helsinki @FIMM_UH - MGH/Harvard - Playing with all kind of data - https://t.co/BffgAbQTls
Abdel Abdellaoui @dr_appie
9K Followers 2K Following Complex Trait Genetics | Population Genetics | Evolutionary Genetics | @AmsterdamUMC | @UvA_Amsterdam
Manolis Kellis @manoliskellis
25K Followers 4K Following Dissecting disease mechanism. Single-cell, Epigenomics, Regulatory Genomics, Disease Genetics, Brain, Cancer, Metabolism. @MIT Prof, @MIT_CSAIL, @BroadInstitute
Hilary Martin @hilsomartin
2K Followers 390 Following Group Leader in Human Genetics at the Wellcome Sanger Institute. College Research Associate at St John's College, Cambridge.
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
James Fasham @JamesFasham
3K Followers 3K Following 🧬👨⚕️Genetics doctor & PhD 💻 💬 Social media: @ESHGsociety @JMG_BMJ and @BritSocGenMed. 🤖 @DiseaseGenes bot creator (#Genetics #Genomics #RareDisease)
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
Clement Chow @ClementYChow
17K Followers 5K Following henfluencer - geriatric millennial - #stopasianhate - don’t call me Clem - emotional eater™️- he/him- @chowlab
Konrad Platzer @platzer_k
1K Followers 391 Following Institute of Human Genetics @hug_leipzig @UKL_Leipzig • 👨💻 neurodevelopmental disorders (w/ epilepsy) 🧠 • rare diseases • gene discovery • apprentice in 📸
Michael Love @mikelove
18K Followers 5K Following I'm not on twitter anymore, find my on Bluesky or Mastodon
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.
Mike Inouye @minouye271
7K Followers 450 Following Computational biologist. Geriatric millennial. American Australian. Professor @Cambridge_Uni. Director of Data Sciences @BakerResearchAu. Director @CamBakerSGI.
Graham Coop @Graham_Coop
20K Followers 3K Following Popgen @UCDavis. @[email protected] . Tweets, grammar, & spelling are my views only.He/him. #OA popgen book https://t.co/R6I2dcaEGf
Saxon E. Musk @saxon__musk
128 Followers 747 Following Am Saxon musk The son of Elon Musk CEO of twitter (X) and Tesla 🚀🚀🚀🇺🇸
Sofia Douzgou Houge @SofiaDouzgou
713 Followers 510 Following Senior Consultant in Medical Genetics @haukeland_no Executive Board member @ernithaca Editor @ClinDysmo Ιδρύτρια https://t.co/QA1ktGzNKS
Karl Heilbron @karlheilbron
173 Followers 276 Following
Saubashya Sur, PhD @SaubashyaSur
615 Followers 1K Following Assistant Professor@Ramananda College, Bankura University; Expertise in Bioinformatics # Former Postdoc @liu_universitet @FU_Berlin @UmeaUniversity; Shutterbug
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
Barbarii Teodora @TeodoraBarbarii
25 Followers 78 Following Medical Genetics resident in training. Interested in studying neurodevelopmental disorders and rare neurogenetics diseases #NDDs, #neurogenetics, #rarediseases
Tugce Bozkurt @btugce__
26 Followers 122 Following PhD Candidate👩🏻💻Human Genetics & Genomics, Rare Diseases🧬
shiga-tanuki @shiga_tanuki
98 Followers 1K Following
NewsRx® Butter® @NewsRxButter
173 Followers 972 Following Research solutions for scientists. Our AI software monitors all emerging research and innovations worldwide. News and resources at https://t.co/1zBCLi4AKv
5 Prime Sciences @5PrimeSciences
65 Followers 35 Following We use human genetics to accelerate your drug development program
Heather Marriott @HevMarriott
266 Followers 370 Following Postdoc in Translational Bioinformatics of ALS/MND @kingsmnd 🧠 | @mndassoc and @MNDScotland Pre-Fellow | All views are my own. she/they 🌈
Sichu Lu(Sichu.Lu218@.. @lu_sichu
1K Followers 4K Following nlab fan account, arxiv surveyor, pubmed enjoyer, two culture bridger, vacuous high gossiper, dearth of any domain expertise, reluctant g theorist, gpu poor,
Denis Wirtz @deniswirtz
39K Followers 8K Following VP for Research @JohnsHopkins, T.H. Smoot Professor @HopkinsEngineer & @HopkinsMedicine, Co-founder @INBT_JHU, Lab: https://t.co/9OtmgB6InU Tweets are my own.
ISBB 2025 @isbb2025
15 Followers 228 Following
Pamela Romero Villela @Pamela_RomeroV
11 Followers 125 Following
Yuyang Chen @quenchentin
116 Followers 49 Following PhD student - Computational Rare Disease Genomics group with @nickywhiffin, Big Data Institute, University of Oxford (https://t.co/bfBM3lqX75)
Rui Zhang @RuiZhang2022
20 Followers 88 Following Postdoc at MGH & Broad Institute | Ph.D. in Computational Biology
Mena Hasan @menah0238
6 Followers 728 Following
Nandita M @mnandita
496 Followers 2K Following Genomics scientist and educator #uga_genetics alumnus
Brad Jermy @brad_jermy
372 Followers 437 Following Postdoctoral researcher at University of Helsinki for https://t.co/ityW4Q1IoG SGDP Alumni Kings College London
[email protected].. @nayantasodha1
0 Followers 3 Following
Amara Shaukat @amara_shaukat
77 Followers 206 Following Genomics is a fun 😊. Genetics, PhD, University of Otago New Zealand, postdoctoral research fellow in computational genetics, UNAM. Genetic, Epigenetic, Popgen
ChrisAWalsh @ChrisAWalsh1
2K Followers 859 Following
Borh777 @borh7777
0 Followers 412 Following
Garrett W Ennis @GarrettWEnnis2
82 Followers 289 Following 1st year clinical psychology PhD student @ ut austin psychiatric genetics - categorization is violence towards nature cat dad, enthusiast, bad poet, sleepy
John Farrell @nextgen_seq
15 Followers 92 Following
Kathleen Helen Burns @KathleenHBurns
4K Followers 5K Following Chair of Pathology @DanaFarber | Professor of Pathology @HarvardMed @broadinstitute | physician-scientist studying #transposons in disease
Philip Anderson @PhilipA289
97 Followers 230 Following
Timothy Ciesielski @TimCies
494 Followers 3K Following Sc.D. Environmental Health, M.D., M.P.H. Epidemiology, Omics, Diverse Evidence Integration, and Planetary Health - Context Matters https://t.co/36kul6mlHq
Chrissy Austin-Tse @CAustintse
66 Followers 91 Following Clinical Molecular Geneticist @MassGeneral @BroadInstitute | Opinions my own
Hamza Mustapha @hamza193141
1 Followers 73 Following
Kevin Daly @GingerHowley
408 Followers 670 Following aDNA, goats, Open Access Science, MTG, open peer review. I watch too many films: https://t.co/z6raFpbV6g He is openly gay (citation needed).
Santhi Ganesh @SanthiKGanesh
422 Followers 552 Following Physician-scientist, cardiovascular medicine and genetics @UMich #FMD #SCAD #Hypertension #CVDinWomen
Will Schwartzman @WillSchwartzman
30 Followers 132 Following Ohio State Med | @SarnoffCardio Fellow | Aspiring physician-scientist Interests: Tissue engineering, regenerative medicine, community-partnered healthcare
Chris Kennedy @c3K
2K Followers 4K Following Psychiatry @MGHPrecisionPsy @MGHPsychiatry @HarvardMed Broad Inst.; @UCBerkeley biostat PhD. {Targeted, machine, deep} learning, causal inference, IRT, equity.
CACNA1A Foundation @cacna1a
2K Followers 2K Following Nonprofit dedicated to a brighter future for those with CACNA1A variants. On a mission to fund life changing research while supporting families along the way.
Prof Dr. rer. nat. Ni.. @EndlichNicole
748 Followers 1K Following Studied Chemistry, at the University Heidelberg, now more than 20 years kidney researcher, 2019 founder of the startup NIPOKA.
Minja Velimirovic Sim.. @minja_bio
394 Followers 761 Following PhDing #CRISPR n other🦄 @SherwoodLab! I’m the limiting reagent your papers need 🦦 #FirstGen https://t.co/kUYNq7ZmBz
Tim Yu @timyu
2K Followers 354 Following Neuroscience, Genetics, Genomic Medicine. Tweets my own unless one of our girls has broken into my account again in which case sorry for all the Pokémon pics
jp flores (he/him) @jpflores_31
2K Followers 2K Following PhD Candidate in Bioinformatics & Computational Biology @UNCBBSP | @NSF GRFP ‘22 | ⚾️🐅@Occidental ‘21 | 🎙️Host @wheredoesitstem | Views = mine
Murillo R. @mufernando_
125 Followers 330 Following Computational biology and evolutionary genetics. PhD in Biology at the University of Oregon. From 🇧🇷.
Eric Earley @EricJayEarley
48 Followers 140 Following Statistical Geneticist @rti_Int studying genetic basis of human diseases blood disorders, sickle cell, pediatric diseases
Jamie Fraser, MD, PhD.. @NeuroMetabolism
871 Followers 1K Following 👩🏻⚕️👩🏻🔬studying 🧠 injury in rare 🧬diseases. #Labrune #LCC #MPAN Opinions mine. she/her/Dr. Support our research: https://t.co/SiDs3UTZVY
Gustav Ahlberg @ahlbergustav
21 Followers 171 Following
Seth Sharp @SethASharp
436 Followers 1K Following Postdoc in the Translational Genomics of Diabetes Lab working on GWAS, function and polygenic risk. @StanfordMed formerly @ExeterMed @turinginst
Segun Fatumo @SFatumo
4K Followers 941 Following Associate Professor, NCDE, LSHTM, United Kingdom. Associate Professor, MRC/UVRI and LSHTM Uganda. Genomics | GWAS | Africa | Capacity Building | Global Health
Veera Rajagopal @doctorveera
17K Followers 4K Following MBBS, MD, PhD | GWAS storyteller | Scientist at Regeneron | Human genetics & drug discovery in Neuroscience & Psychiatry | He/Him
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 🦈. #🕷🕸💙
Anshul Kundaje (anshu.. @anshulkundaje
22K Followers 2K Following Genomics, Machine Learning, Statistics, Big Data and Football (Soccer, GGMU). Post: @anshulkundaje, Threads: anshulkundaje
Lior Pachter @lpachter
44K Followers 2K Following Bren Professor of Computational Biology @caltech. Blog at https://t.co/FFQzhEsmhi. Tweets represent my views, not my employer's. #methodsmatter
Pradeep Natarajan @pnatarajanmd
23K Followers 818 Following Dir of Preventive Cardiology @MassGeneralNews | Assoc Dir of Personalized Medicine @MassGenBrigham | Assoc Prof @harvardmed | Assoc Mem @broadinstitute
Ewan Birney @ewanbirney
50K Followers 2K Following Deputy Director General of EMBL, Director of EMBL-EBI. I have an insatiable love of biology. @[email protected]. I also work with ONT, Dovetail + GeL.
Eric Fauman @Eric_Fauman
6K Followers 246 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
Andrea ganna @andganna
3K Followers 605 Following Associate Prof in health data science @HiLIFE_helsinki @FIMM_UH - MGH/Harvard - Playing with all kind of data - https://t.co/BffgAbQTls
Abdel Abdellaoui @dr_appie
9K Followers 2K Following Complex Trait Genetics | Population Genetics | Evolutionary Genetics | @AmsterdamUMC | @UvA_Amsterdam
Manolis Kellis @manoliskellis
25K Followers 4K Following Dissecting disease mechanism. Single-cell, Epigenomics, Regulatory Genomics, Disease Genetics, Brain, Cancer, Metabolism. @MIT Prof, @MIT_CSAIL, @BroadInstitute
Hilary Martin @hilsomartin
2K Followers 390 Following Group Leader in Human Genetics at the Wellcome Sanger Institute. College Research Associate at St John's College, Cambridge.
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
James Fasham @JamesFasham
3K Followers 3K Following 🧬👨⚕️Genetics doctor & PhD 💻 💬 Social media: @ESHGsociety @JMG_BMJ and @BritSocGenMed. 🤖 @DiseaseGenes bot creator (#Genetics #Genomics #RareDisease)
Anne Carpenter, PhD @DrAnneCarpenter
22K Followers 2K Following Discovery in images. Enthralled by science. 5 kids. She. SAB Recursion, Quiver. Founder SyzOnc. https://t.co/CQCHnSAc9M
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
Clement Chow @ClementYChow
17K Followers 5K Following henfluencer - geriatric millennial - #stopasianhate - don’t call me Clem - emotional eater™️- he/him- @chowlab
Michael Love @mikelove
18K Followers 5K Following I'm not on twitter anymore, find my on Bluesky or Mastodon
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.
Mike Inouye @minouye271
7K Followers 450 Following Computational biologist. Geriatric millennial. American Australian. Professor @Cambridge_Uni. Director of Data Sciences @BakerResearchAu. Director @CamBakerSGI.
Zoltán Kutalik @zkutalik
2K Followers 630 Following Statistical Geneticist, Group leader at University of Lausanne/Unisante, father, climber, runner
Rachel Ungar @raungar
482 Followers 698 Following Genetics PhD Student at @StanfordMed | @UArkansas Bio Alumna | Interested in rna-seq // rare disease // x-chromosome // multi-omics // ethics //chronic illness
USCIS @USCIS
401K Followers 108 Following Official Twitter account of U.S. Citizenship and Immigration Services. Regional accounts: @USCISMediaNorth @USCISMediaSouth @USCISMediaCntrl @USCISMediaWest
ChrisAWalsh @ChrisAWalsh1
2K Followers 859 Following
Monica Hsiung Wojcik @HereAtMonica
399 Followers 387 Following Neonatologist and geneticist. I also have kids. These are my tweets! (opinions are my own)
Chrissy Austin-Tse @CAustintse
66 Followers 91 Following Clinical Molecular Geneticist @MassGeneral @BroadInstitute | Opinions my own
Kevin Daly @GingerHowley
408 Followers 670 Following aDNA, goats, Open Access Science, MTG, open peer review. I watch too many films: https://t.co/z6raFpbV6g He is openly gay (citation needed).
Adam Butterworth @aidanbutty
2K Followers 2K Following Professor of Molecular Epidemiology @CAMBRIDGE_CEU @Cambridge_Uni. Tweeting in a personal capacity.
Inga Prokopenko @Inga_genetics
695 Followers 622 Following Professor of e-One Health, Head of Section of Statistical Multiomics, University of Surrey
Tim Yu @timyu
2K Followers 354 Following Neuroscience, Genetics, Genomic Medicine. Tweets my own unless one of our girls has broken into my account again in which case sorry for all the Pokémon pics
Segun Fatumo @SFatumo
4K Followers 941 Following Associate Professor, NCDE, LSHTM, United Kingdom. Associate Professor, MRC/UVRI and LSHTM Uganda. Genomics | GWAS | Africa | Capacity Building | Global Health
Predrag Radivojac @pedjagogue
382 Followers 319 Following Professor of Computer Science at Northeastern University @KhouryCollege.
Kathryn McGurk @KathrynMcGurk
770 Followers 643 Following Cardiovascular Geneticist / Bioinformatician 🇮🇪 @TheBHF Immediate Research Fellow @ImperialNHLI @BHFCoREImperial @MRC_LMS @ImperialBRC
Connie Bezzina @cbezzina1
1K Followers 1K Following Geneticist at Amsterdam University Medical Center | inherited heart disease genetics🫀 🧬| complex inheritance | mechanistic studies in model systems
Prof Zornitza Stark @ZornitzaS
2K Followers 1K Following Clinical Geneticist, @TeamVCGS @AusGenomics @PanelAppAus @RCHMelbourne @MCRI_for_kids #AcuteCareGenomics. Professor @UniMelbMDHS. All views are my own.
Siwei Chen @sc2643
48 Followers 47 Following
Tim Coorens @TimCoorens
790 Followers 293 Following Postdoc in @getz_lab @broadinstitute | Former PhD student @sangerinstitute | Lineage tracing, cancer genomics, human development
Linh N Tran @lntran26
223 Followers 668 Following PhD Student @uarizona studying population genetics in the @RyanGutenkunst Lab. Alum of @KungLab @BrynMawrCollege. She/her.
Greta Pintacuda @gretapinta
248 Followers 370 Following Biologist, leftist, RNA-enthusiast. Loves neurobiology, classic novels, arts, goldendoodles & women rights.
Jack Fu @JFuBiostats
210 Followers 130 Following Instructor in Neurology at Harvard Medical School/MGH @TalkowskiLab. PhD @jhubiostat. Genomics, genetics, statistics, and 🚲🚲.
Shawn Fayer @ShawnFayerGC
386 Followers 548 Following Genetic counselor and PhD candidate at @uwgenome. Using deep mutagenesis to reduce uncertainty in genetic testing.
Dr Harriet Dashnow @hdashnow
2K Followers 878 Following Postdoc @aaronquinlan. Incoming Asst. Prof @CUBiomedInfo #RareDisease #Genomics #STRs #WomenInSTEM. Parent. Aussie. she/her Views my own @hdashnow.bsky.social
Akl Fahed @aklfahed
2K Followers 3K Following Physician-scientist, Interventional Cardiologist @MGHMedicine @HarvardMed @BroadInstitute | genomics, coronary artery disease, healthcare innovation
Rahul Gupta @rahulg603
415 Followers 502 Following MD/PhD Student at @harvardmed and @MIT. Coadvised by @VamsiMootha and @bmneale. Interested in statistical genetics, mitochondrial biology, and disease.
Satoshi Koyama @skoyamamd
311 Followers 373 Following @nih_nhlbi K99 Postdoc in @pnatarajanmd and @patrick_ellinor lab @broadinstitute | @CGM_MGH | @mghcvrc | @harvardmed Cardiology, Genetics, and Informatics
So Mi Jemma Cho @somijemmacho
358 Followers 279 Following CV Epidemiologist @MassGeneralNews|@BroadInstitute; alum: @UCBerkeley|@BerkeleyLab|@iSEVERANCE
Alexandre Reymond @AlexReymondESHG
255 Followers 70 Following Human geneticist, Prof at the Center for Integrative Genomics, University of Lausanne, chair of the ESHG scientific program committee
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
Robert Krueger @robertK_vis
285 Followers 413 Following Postdoc Research Fellow at Harvard University / Incoming Assistant Professor at New York University.
Chris Cassa @ccassa
451 Followers 1K Following
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)
Anna Lindstrand @LindstrandAnna
94 Followers 85 Following
Xin Wang @xxinxwang
79 Followers 155 Following PhD student @sangerinstitute & @Cambridge_Uni. Previously worked @broadinstitute & @mghcvrc. MPH from @UMich and MBBS from @sjtu1896.
Xiaoyuan (Ethan) Zhon.. @EZ_StatGen
155 Followers 626 Following PhD student @UChicago Human Genetics.
Cal Liao @liao_cal
213 Followers 284 Following Postdoc in the Neale and Talkowski labs at @CGM_MGH and @broadinstitute | 🇨🇦 in 🇺🇸 | McGill PhD 🏳️🌈
Matt Sampson @kidneyomicsamps
3K Followers 4K Following Peds Neph @BostonChildrens @HarvardMed @BroadInstitute Obsessed w/genomics to discover causes & cures for pediatric kidney disease #Kidneyomics @thesampsonlab
Sarah Louise Stenton @SL_Stenton
134 Followers 272 Following Deciphering the genetic cause of rare diseases | Postdoctoral Research Fellow @ BCH and Broad Institute of MIT and Harvard
Sasha Gusev @SashaGusevPosts
9K Followers 3K Following Statistical geneticist. Associate Prof at @DanaFarber | @harvardmed | @DFCIPopSci
Eric and Wendy Schmid.. @Schmidt_Center
480 Followers 84 Following We seek to understand the programs of life by creating a strong community at the interface of machine learning and biology
Ryoji Amamoto @AmamotoRyoji
837 Followers 1K Following Assistant Professor at Massachusetts Eye & Ear / Harvard Medical School || Degeneration & Regeneration of the retina.
Joe Dougherty @joeddougherty
952 Followers 677 Following genetics, genomics, neuroscience, and tacos. follow also the lab's collective account @carperibosomam
Nathan Clark nclark.b.. @NathanClark111
930 Followers 769 Following Associate Professor at the University of Pittsburgh studying adaptive and convergent evolution. Educator, father of 3, runner, and climber of rocks. he/him
Wei Zhou @weizhouw
879 Followers 249 Following I develop and apply statistical and computational tools to study genetics of human diseases and traits using biobanks. Assistant Investigator @CGM_MGH
Joelle Mbatchou @joellembatchou
379 Followers 264 Following Statistician. Avid book reader, world traveler and cook (recipes are welcome).
Vijay Ganesh @VGaneshMDPhD
284 Followers 226 Following Neurologist @BrighamWomens, @HarvardMed, Fellow @broadinstitute @bostonchildrens | Improving diagnostics and treatments of genetic neuromuscular diseases.
Ajay Nadig @NadigAjay
604 Followers 1K Following md-phd student @harvardmed @mit in @elisebrobinson and @luke0connor labs/ interested in autism, complex trait genetics, developmental neuro, and sugary cereal
Sam Freesun Friedman @lucidtronix
286 Followers 342 Following Scientist thinking about machine learning for health, care, art and interactivity.
Mass General Research.. @MGH_RI
10K Followers 3K Following The largest hospital-based #research program in the U.S. Where #science and #medicine converge to improve patient care. Blog: https://t.co/YY6ReDgYhy We ❤️🔬
@IsabellaGhement @mzloteanu @RubinPsyc @camjpatrick My view is that we usually shouldn't need to adjust for for multiple comparisons. annalsthoracicsurgery.org/article/S0003-…
@ksamocha @gnomad_project bang bang bang 💪talk the talk, walk the walk 🤝
Published today, our reasons for optimism that success rates in drug discovery can be improved by picking the right targets using human genetics: nature.com/articles/s4158… I break the key findings down panel by panel in this thread: x.com/cureffi/status…
Is having even more gene-disease associations still useful for picking drug targets? For which types of programs does it matter? Has pharma shifted focus towards genetically validated targets? New paper by me, @mnelsonxy, @DongCoco90417, & @jivecast doi.org/10.1101/2023.0…👇
Huge thanks to my PhD supervisor @hilsomartin, our co-authors, @ksamocha, @RuthEberhardt, @kartikchundru, @HelenVFirth, @carolinefwright, and @mehurles, the families and clinicians who contribute to DDD and @deciphergenomic!
Our paper “Investigating the role of cis-eQTLs in modifying the penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders” (NDDs) is out in Scientific Reports! Three interesting findings led to this study: nature.com/articles/s4159…
We are getting amazing emails from people who have identified individuals with RNU4-2 variants ❤️ If this is you, and your families are interested in meeting others or being part of a community, then please direct them to @Unique_charity (@swynn_unique).
Thrilled to share our latest discovery on a spliceosomal snRNA gene causing neurodevelopmental disorders: medrxiv.org/content/10.110… Thank you to everyone who contributed; it’s been a phenomenal effort to collaborate with clinicians and researchers for what would help many families!
@nickywhiffin @ppgardne @GenomicsEngland right, and the lack of variation in this region in all available genome reference data is pretty compelling that mismapping issues aren't a major driver here. these variants show up in multiple NDD cohorts but not at any appreciable level in multiple large control cohorts.
Secondly, what a testament to @nickywhiffin and the global rare disease community that this was able to go from an observation in @GenomicsEngland to a preprint with over 100 observed cases in just over a month. We truly live in a golden age for disease genetics. (3/3)
We’re super excited to host @jnovembre in person at the @broadinstitute #MPG seminar tomorrow morning. Looking forward to hearing his #PopGen perspectives @CGM_MGH @ksamocha
Infertility affects 1 in 6 couples across the globe, but its cause remains unknown in over 30% of cases 😔 In our latest work with @ceclindgren, we discover rare and common genetic variants associated with infertility in 🇬🇧🇩🇰🇪🇪🇫🇮🇮🇸 medrxiv.org/content/10.110… Thread ⬇️
@ksamocha @genome_gov 🎉🥳 Congratulations Kaitlin! Very much well-deserved and certainly just the first of many to come!!!
@ksamocha @genome_gov That’s amazing and super well deserved! Huge congratulations!
@ksamocha Congratulations!! 🎉
@ksamocha @genome_gov Congratulations!!
Wrapping up a wonderful couple of days in Miami for the Pediatric Nephrology conference and some beach time with @sseegal & my littlest nephron. Thanks to @TheSampsonLab for the onesie 🫘 🧬 and @mdefrei13 for the great conference!
@ksamocha @genome_gov Congratulations!!! The first of many to come, for sure :)
@ksamocha @genome_gov Congrats! Excellent news!
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