BCM HGSC @BCM_HGSC
A world leader in genomics, the Baylor College of Medicine Human Genome Sequencing Center advances biology & genetics through improved genome technologies. hgsc.bcm.edu Houston, TX Joined June 2015-
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Analysis and benchmarking of small and large genomic variants across tandem repeats go.nature.com/4bffVCr
🧬Fun fact: Your DNA could stretch from the Earth to the Sun and back 600 times!🧬 Happy National #DNADay! We're excited to host high schools students tomorrow to educate them about our involvement in the #HumanGenomeProject. @genome_gov @bcmhouston @BCMFromtheLabs #DNADay24
We would like to thank our administrative staff for all the hard work and dedication they give our team. Happy #AdministrativeProfessionalsDay!
.@BCM_Surgery, @BaylorGenetics & @BCM_HGSC announced funding of a Seed Grant in hopes to increase collaboration between @bcmhouston depts. Group presentations provided attendees with synopses of the multitude of #research and projects to showcase opportunities.
Last week, the @BCM_HGSC hosted a group of students from MD Anderson's Molecular Genetics Technology program. The students visited the labs and learned more about our #genomic research and the advanced tech behind it. @MDAndersonNews @bcmhouston @BCMFromtheLabs
Excited to announce our preprint using MAVEs to reduce variant classification disparities in underrepresented populations and demonstrating AI bias in computational predictors for variant classification! (medrxiv.org/content/10.110…) Tweetorial below! (1/25)
We want to wish all the lab techs and scientists a Happy #MedicalLaboratory Professionals Week! Thank you for all the hard work you do in the labs! #LabWeek #Lab4Life #Labvocates
New Sniffles (SV caller for @PacBio & @nanopore ) version public github.com/fritzsedlazeck… . . Improvements on sample merging & smaller issues. Going forward more consistent releases to come and thanks everyone for reporting issues! @lfpaulin @BCM_HGSC @bcmhouston @RiceCompSci
Thrilled to share our work finally out in @GenomeMedicine 🌟 Delving into crucial insights in the genetics of laterality defects 🫀 Dive into the details of our findings link.springer.com/article/10.118… led by @ShaineMorris1 @zcoban @LupskiLab @bcmgenetics
Thrilled to share our work finally out in @GenomeMedicine 🌟 Delving into crucial insights in the genetics of laterality defects 🫀 Dive into the details of our findings link.springer.com/article/10.118… led by @ShaineMorris1 @zcoban @LupskiLab @bcmgenetics
Many thanks to @OlinkProteomics for hosting a great lineup of speakers including @BCM_HGSC's Dr Harsha Doddapaneni, who discussed Omics technologies in commercial spaceflight research. #TRISH @BCMSpaceHealth @BCMFromtheLabs
Looking forward to a great lineup of speakers at tomorrow's @OlinkProteomics Biolinker Summit, including @BCM_HGSC's Dr Harsha Doddapaneni. Learn more here: olink.com/event/olink-bi…
Dr. Creighton et al's new paper shows that #geneticVariation passed down through #generations may influence #cancer development @CellRepMed @BCMDeptMedicine @BCMCancerCenter @BCM_HGSC #structuralVariation #germline blogs.bcm.edu/2024/03/28/fro… via @bcmhouston
Our 10th Long Read webinar is now under way! Join in now and hear about the latest advancements from @sedlazeck, @mitenjain, @tycheleturner, @GenomeInABottle, @VanessaPorter and more! hgsc.bcm.edu/LongReadSeminar
.@LupskiLab @zcoban @CMBCarvalho @song_xiaofei @Ceballos_Gene @poseypod et al show how #genes contribute to different #recessive #geneticDisorders in different populations. @GREGoR_research @UTHealthSPH @bcmhouston @TexasChildrens @bcmgenetics @GIMJournal bcm.edu/news/the-genom…
Thrilled to share my preprint! It bridges the gap between accurate & affordable methods for 389 complex medically relevant targeted #genes solving using #longreads @PacBio & @TwistBioscience #Genetics #Science
Thrilled to share my preprint! It bridges the gap between accurate & affordable methods for 389 complex medically relevant targeted #genes solving using #longreads @PacBio & @TwistBioscience #Genetics #Science https://t.co/Fm9Oa8eJWZ
Interested in #AI's potential to enhance #patient accessibility to complex pharmacogenomic information? Drs. M Murugan, @CBallantyneMD, R Gibbs et al have a paper on topic. @AMIAinformatics tinyurl.com/4w3vnj88 @BCMDeptMedicine @BCM_HGSC @bcmgenetics
New work on #Cancer variant prioritization using #T2T . It helps & we can overcome variant annotation issues! + An updated somatic SV benchmark for COLO829/COLO829BL across 4 replicates Grch38 +T2T! New preprint: medrxiv.org/content/10.110… @lfpaulin @BCM_HGSC @oneillkza etc!
A @BCM_HGSC and @Allelica_PRS collaboration marks a step toward making world class #genomicMedicine accessible, equitable, and impactful for patients across diverse communities. @bcmhouston
A @BCM_HGSC and @Allelica_PRS collaboration marks a step toward making world class #genomicMedicine accessible, equitable, and impactful for patients across diverse communities. @bcmhouston
New preprint on panel of 389 medically relevant genes in repeats: medrxiv.org/content/10.110… Makes long read sequencing more cost efficient to study hard to assess genes! + new analysis pipeline @MedhatMahmoud_ Great collaboration @BCM_HGSC @PacBio @TwistBioscience & many more!
With a recently announced collaboration, @BCM_HGSC will be integrating multi-ancestry polygenic risk scores (PRS) from @Allelica_PRS into the clinical environment to provide a sound framework that accounts for the diversity in the patient population. prnewswire.com/news-releases/…
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.
Oxford Nanopore @nanopore
65K Followers 10K Following From portable to population scale, nanopore devices offer direct analysis of DNA/RNA in-real time — towards the analysis of anything by anyone, anywhere.
BCMHouston @bcmhouston
29K Followers 2K Following Baylor College of Medicine is a health sciences university that creates & applies science and discoveries to further education, healthcare & community service.
BCM Department of Mol.. @bcmgenetics
894 Followers 106 Following The Department of Molecular and Human Genetics at @BCMHouston is transforming medicine, research, and education in genetics and genomics.
BCM Department of Med.. @BCMDeptMedicine
4K Followers 1K Following The official Twitter account of @BCMHouston's Department of Medicine, where we advance future medicine, educate future doctors, and provide compassionate care.
Claudia M Carvalho @CMBCarvalho
339 Followers 392 Following Assistant Investigator at @PNRIseattle Molecular Biologist fascinated by Human Genetics. Study disease mechanism and genomic structural variation.
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 🐦🦣☁️🧵
Christine R. Beck @christinerbeck
1K Followers 768 Following Assistant Professor at The Jackson Laboratory of Genomic Medicine and the University of Connecticut Health Center Views are my own @christinebeck.bsky.social
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.
Sharon Plon @splon
3K Followers 299 Following Medical Geneticist, ClinGen investigator, researcher and Asst Dean at Baylor College of Medicine. Opinions my own.
BCM Department of Neu.. @bcm_neurosci
2K Followers 1K Following We are the department of scientists, students and staff dedicated to unraveling the mysteries of the brain at @BCMHouston
zeynep coban akdemir .. @zcoban
307 Followers 506 Following Mother, Assistant professor @UTexasSPH Alumni: IFL, Sabanci, Harvard, UTHealth, BCM
Daniel Calame, MD, Ph.. @DanielGCalame
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Nature Biotechnology @NatureBiotech
302K Followers 2K Following Publishing the very best of biotech science and business. Part of @SpringerNature and @NaturePortfolio. On Facebook (natbiotechnol) & IG (nature.biotechnology)
PacBio @PacBio
46K Followers 3K Following Our mission is to enable the promise of #genomics to better human health by creating the world’s most advanced #sequencing technologies. #PacBio
Angelina (Gina) Borto.. @GinaBortoletto
867 Followers 2K Following @BCM_MSTP student | PhD in Translational Biology and Molecular Medicine | @GlassHealthHQ Leadership | #pathmatch25 | she/her | opinions are mine
Effie Parks @OnceUponAGene
5K Followers 3K Following Nuclear Advocate | Award Winning Podcaster | Speaker | Captain Connection | #RareDisease #RareMama to my sweet, Ford, who lives with #CTNNB1 🦓
Javier Santoyo @jsantoyo
5K Followers 964 Following Molecular & computational biologist interested in #Genomes #Transcriptomes. Doing #Sequencing #Bioinformatics at @EdinburghUni. Head of @edgenome. Posts my own.
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
The Innovation | Medi.. @Innov_Medicine
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Nandan Kumar Mondal @NKmondal
278 Followers 295 Following Assistant Professor, Michael E. DeBakey Department of Surgery, Cardiothoracic Transplantation and Circulatory Support, Baylor College of Medicine, Houston,TX
GenZ in the Lab @GenzLab
79 Followers 278 Following Young biochem lad with big dreams. Sharing my thoughts while going through Academia
RADIOMETER@ABL800B @draeger21
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mulili @mulilisolo
38 Followers 283 Following I am a stout space man pragmatic of the journey that lies ahead
HILO @Tier1Angel
87 Followers 395 Following they/them/their Kanaka Maoli Boston BlueBikes also rolling on a State 4130
Mashuk Siddiquee @MashukSiddiquee
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JackyfromMars @Jack_2_Mars
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Ahmad Ghorab, MD, MS,.. @AhmadGhorab
565 Followers 2K Following Hematology Oncology Fellow @MayoHemOnc @MayoClinic Florida | Assistant Professor of Medicine | Tweets, thoughts & opinions are mine
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511 Followers 5K Following Ciclopentanoperhidrofenantreno y ahora un DAMP más generado por esta vida. 🫀🤓🧠
Raphael Amemiya @raphael_amemiya
2 Followers 187 Following
Joel A. Morales-Rosad.. @_joel_morales
640 Followers 995 Following PGY3 AP/CP Resident 🔬@vumcpathology 🧬PostDoc @MayoClinicCIM 🏥@medupr🦠🦉 #UPRH alumnus 🍨🦦🦖📚 Views & opinions my own🇵🇷🏳️🌈🤓he/him/él
Allelica @Allelica_PRS
428 Followers 876 Following Allelica is a Genomics Software Company developing algorithms and digital tools to accelerate the integration of Polygenic Risk Score in the clinical practice.
Daisuke Nakada @NakadaLab
260 Followers 134 Following The Nakada lab at Baylor College of Medicine. We study hematopoietic stem cells, leukemia, and metabolism.
Suiliang Xia @YanYang80603102
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Serena @SerenaMargrita
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Gabriela Repetto 🧬 @gmrepetto
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Lilu-Guo @LiluGuo1
45 Followers 329 Following bioinformatic algorithm, xidian university, xi'an china
Vanessa Porter, PhD @VanessaPorter
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Enrico R. Barrozo @BarrozoPhD
172 Followers 288 Following Assistant Professor at Baylor College of Medicine and Texas Children’s Hospital
Howard K Schramm @HowardSchramm
7 Followers 71 Following
Charles Lourenco @CharlesGenetics
190 Followers 755 Following Clinical Geneticist, PhD/MD Professor of Clinical Genetics and Hereditary Metabolic Disorders Faculty of Medicine of São José do Rio Preto (FAMERP) - Brazil
Thuse @Thuse391195
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Roman Praschberger @RPraschberger
357 Followers 849 Following Neurobiologist, philosopher, MD, dad | Neurodegeneration research | Staff scientist @Verstreken_Lab @CBD_VIB @VIBLifeSciences | @JepsonlabU @UCLIoN alumnus
Salendra Singh @Salendra_Singh_
839 Followers 5K Following 🖥️ Senior Software Developer/Data Scientist 💼 Center for Immunotherapy & Precision Immuno-Oncology @CCLRI, @ClevelandClinic 📧 [email protected]
Priscilla Foster @prissyfoster24
2 Followers 18 Following
Nicole Tarsan @illuminaNAT
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Jingyue Wu @jorjawa
1 Followers 17 Following Currently at @GWSMHS | Prior: @penn_state @Georgetown | Just try to learn more science, might tweet occasionally.
Doddapaneni Mallikarj.. @rao_doddapaneni
0 Followers 19 Following
RNA-Seq Blog @RNASeqBlog
9K Followers 5K Following Transcriptome Sequencing Research & Industry News
Kahlil Lawless @LawlessKahlil
1K Followers 3K Following Dad. Kiwi in Canada. Posts + opinions are my own. Global Market Development - Population Genomics at Illumina #genomics #dna #nextgenerationsequencing
PlantGenome @plantgenomeinfo
49 Followers 127 Following
Sowmya Theegalapalli @STheegalapalli
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Jinjing Jian @jjjaneee666
0 Followers 2 Following
Ameya Walimbe, MD PhD @AmeyaWalimbe
92 Followers 409 Following Fellow @BCMChildNeuro, Formerly @Iowa_MSTP @HHMINews 🧠 🔬 Interested in neurogenetics, rare disease
Farah Ladha @Farah_Genetics
788 Followers 802 Following Pediatric genetic counselor🧬 @bcmhouston @TexasChildrens| Advocate for increasing access to genetics services. Tweets/opinions are my own.
Rupa Kanchi @rupakanchi
62 Followers 280 Following Mother🦸♀️ Scientist #Bioinformatics🧬📈📊 @bcmhouston reader📚occasional writer✍️ certified #yoga instructor🕉️ #scicomm enthusiat
melicious0929 @melicious09291
35 Followers 150 Following
Geneyx @GeneyxGenomex
196 Followers 502 Following A comprehensive genomic analysis solution for whole genome, exome and gene panels. Suited for Long-Read. In collaboration with Oxford #Nanopore and #PacBio
chatgpt-czh @CzhChatgpt8183
111 Followers 1K Following
Prof Peter Hotez MD P.. @PeterHotez
452K Followers 8K Following Vaccine Scientist-Author-Combat Antiscience @bcmhouston Professor Pediatrics Molecular Virology, @bcm_tropmed Dean, @TexasChildrens Chair in Tropical Pediatrics
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.
Oxford Nanopore @nanopore
65K Followers 10K Following From portable to population scale, nanopore devices offer direct analysis of DNA/RNA in-real time — towards the analysis of anything by anyone, anywhere.
BCMHouston @bcmhouston
29K Followers 2K Following Baylor College of Medicine is a health sciences university that creates & applies science and discoveries to further education, healthcare & community service.
BCM Department of Mol.. @bcmgenetics
894 Followers 106 Following The Department of Molecular and Human Genetics at @BCMHouston is transforming medicine, research, and education in genetics and genomics.
BCM Department of Med.. @BCMDeptMedicine
4K Followers 1K Following The official Twitter account of @BCMHouston's Department of Medicine, where we advance future medicine, educate future doctors, and provide compassionate care.
Claudia M Carvalho @CMBCarvalho
339 Followers 392 Following Assistant Investigator at @PNRIseattle Molecular Biologist fascinated by Human Genetics. Study disease mechanism and genomic structural variation.
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
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 🐦🦣☁️🧵
Christine R. Beck @christinerbeck
1K Followers 768 Following Assistant Professor at The Jackson Laboratory of Genomic Medicine and the University of Connecticut Health Center Views are my own @christinebeck.bsky.social
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.
Sharon Plon @splon
3K Followers 299 Following Medical Geneticist, ClinGen investigator, researcher and Asst Dean at Baylor College of Medicine. Opinions my own.
BCM Department of Neu.. @bcm_neurosci
2K Followers 1K Following We are the department of scientists, students and staff dedicated to unraveling the mysteries of the brain at @BCMHouston
zeynep coban akdemir .. @zcoban
307 Followers 506 Following Mother, Assistant professor @UTexasSPH Alumni: IFL, Sabanci, Harvard, UTHealth, BCM
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)
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
Daniel Calame, MD, Ph.. @DanielGCalame
1K Followers 974 Following Child neurologist studying #RareDisease, #neurogenetics @BCMChildNeuro, @LupskiLab, BCM @GREGoR_research program. Gardener and plant nerd.
Nature Methods @naturemethods
141K Followers 1K Following Nature Methods publishes cutting-edge methods, tools, analyses, resources, reviews, news and commentary, supporting life sciences research. Tweets by editors.
Nature Biotechnology @NatureBiotech
302K Followers 2K Following Publishing the very best of biotech science and business. Part of @SpringerNature and @NaturePortfolio. On Facebook (natbiotechnol) & IG (nature.biotechnology)
Allelica @Allelica_PRS
428 Followers 876 Following Allelica is a Genomics Software Company developing algorithms and digital tools to accelerate the integration of Polygenic Risk Score in the clinical practice.
Miten Jain @mitenjain
1K Followers 93 Following Assistant Professor, Genome Technology Laboratory, @NUBioE1, @NortheasternCOE, @Northeastern
Vanessa Porter, PhD @VanessaPorter
1K Followers 1K Following Post-doctoral fellow at @UBC/@BCCancer_GSC. Studying HPV-driven cancers using short and long read multi-omics. (she/her). 🧬👩💻 🇨🇦
Communications Biolog.. @CommsBio
11K Followers 1K Following An open access @NaturePortfolio journal publishing high quality primary research, reviews and commentary in all areas of the biological sciences.
The GruberFoundation @The_Gruber_Fdtn
619 Followers 160 Following Honors and supports groundbreaking work in Cosmology, Genetics, Neuroscience, Justice and Women's Rights that inspires & enables shifts in knowledge and culture
Eric Vennemeyer @evennemeyer
292 Followers 462 Following 20yrs in Life Sciences/Genomics, mountain biker, sub-amateur surfer, Dad. Work @PacBio (Omniome). I like puns. Views are mine (he/him)
ice mask @wtoxzpw
42 Followers 256 Following
Steven Lang, M.D. @Steven_Lang97
251 Followers 562 Following Pediatric genetics resident physician @bcmgenetics @BCM_Pediatrics | M.D. 23' @umiamimedicine
David Murdock, MD @DavidRMurdock
91 Followers 89 Following Clinical and molecular geneticist, focusing on genetics of aortic aneurysms and dissections @McGovernMed @UTHealthHouston. Tweets are my own opinion.
Human Genetics Nijmeg.. @GeneticNijmegen
541 Followers 79 Following Radboudumc Nijmegen Genetica. Research, erfelijkheidsonderzoek, genoomdiagnostiek en onderwijs.
Christian Gilissen @gilissenc
130 Followers 35 Following
BCM Genetic Counselin.. @bcmgcprogram
665 Followers 86 Following The Genetic Counseling Program offered at @BCMHouston provides an integrated medical genetics graduate education.
Andrew Beggs @adbeggs
5K Followers 3K Following Prof Cancer Genetics & Surgery @unibirmingham, Colorectal Surgeon @uhbtrust, Scientist as well as surgeon. MRC Senior Fellow. Cancer/Surgery/Genomics.
Olink Proteomics @OlinkProteomics
2K Followers 736 Following Olink Proteomics provides innovative solutions for human protein biomarker discovery. Accelerating proteomics together to understand real-time human biology.
Sneha D. Goenka @gsneha261
352 Followers 865 Following (she/her) Incoming Assistant Professor @Princeton ECE 2024, PhD candidate @Stanford, computer architecture & genomics, @ForbesUnder30
Collaborative African.. @CAfGEN1
972 Followers 229 Following Genomics Research An affiliate of the Human Heredity and Health in Africa (H3Africa). Retweeting is not an endorsement
Zain Dardas @zain_dardas
113 Followers 167 Following PhD Candidate studying the mechanisms underlying complex structural variation at @LupskiLab @BCMhouston.
BCM LIFE @BCM_Life
193 Followers 221 Following BCM LIFE serves as the health and wellness program for @bcmhouston students. Follow us for wellness tips, upcoming events and more.
BCM Well-Being Commun.. @BCMWellness5K
126 Followers 115 Following Official Account of the 5K hosted by Baylor College of Medicine students and BCM Well-Being on Nov. 2, 2024.
Jason Chin @infoecho
5K Followers 2K Following Common thing in the following subjects: physics, computation, bioinformatics, systems bio., software, engineering? -- A curious mind. The opinions are my own.
Front Line Genomics @FLGenomics
12K Followers 5K Following Join us in uniting the Genomics community! Our goal is to deliver the benefits of genomics to patients faster
ASM Texas Medical Cen.. @asm_tmc
853 Followers 1K Following We are the Texas Medical Center chapter of @ASMicrobiology. We aim to connect trainees throughout Houston & promote their research!
Tomas Marques-Bonet @tmarquesbonet
2K Followers 2K Following ICREA researcher at UPF and Institute of Evolutionary Biology (UPF/CSIC).Motivated by genomics, evolution, human particularities and almost everything...
Lukas Kuderna @locus_lukas
740 Followers 2K Following genomes and evolution. mainly primates. work @illumina, but all views my own!
Institute of Evolutio.. @IBE_Barcelona
4K Followers 1K Following We work to understand the evolutionary mechanisms that generate biodiversity and to promote its conservation. Joint research centre of @CSIC and @UPFBarcelona.
G42 Healthcare @G42_Healthcare
2K Followers 40 Following #G42Healthcare, a leading health-tech company, is on a mission to develop a world-class healthcare sector in the UAE and beyond, by harnessing data and advanced
Brian R. Fritz @brinomics
328 Followers 508 Following I'm just a guy who likes genomics and stuff. Tweets are my own.
Translational Researc.. @BCMSpaceHealth
2K Followers 440 Following TRISH is a consortium led by @bcmhouston with @MIT & @Caltech. Empowered by NASA's Human Research Program, #TRISH finds and funds novel #spacehealth research.
Yilei Fu @fuyilei96
120 Followers 380 Following Postdoc @sedlazeck lab at HGSC, BCM. Ph.D @RiceCompSci, Treangen Lab
Labroots @Labroots
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Christos Proukakis @proukakis
2K Followers 2K Following Tweets strictly personal. Mostly neurogenetics when not distracted by wars...
Eric Dawson @erictdawson
986 Followers 1K Following Senior Scientist - Genomics, HPC and AI @nvidia . Formerly National Cancer Institute and University of Cambridge. All views are my own. (he/him)
NIH Common Fund @NIH_CommonFund
16K Followers 267 Following Official Twitter account of the NIH Common Fund overseen by the Office of Strategic Coordination, part of @NIH. Privacy Policy: https://t.co/Rat5dGiB3w.…
Daniel Agustinho @D_Agustinho
98 Followers 95 Following Bioinformatician with emphasis on Metagenomics and microbial genetics.
Dept of Computational.. @dbc_unil
703 Followers 132 Following News from the Department of Computational Biology of the University of Lausanne (@unil). Follow us here & on https://t.co/sOCkywRvNC
Dessimoz Lab @DessimozLab
559 Followers 37 Following At the interface between biology and computer science, we seek to better understand evolutionary and functional relationships between genes, genomes & species.
Sina Majidian @SinaMajidian
390 Followers 749 Following #Bioinformatics | Comparative #genomics | DNA #sequencing analysis | Postdoc at JHU | Former researcher @DessimozLab @UNIL @ISBSIB @WUR
David Dylus @ddylus
81 Followers 140 Following
Christophe Dessimoz @cdessimoz
2K Followers 926 Following Director of the SIB Swiss Institute of Bioinformatics (@ISBSIB) and Prof at Uni of Lausanne (@DBC_UNIL @DessimozLab). Follow me https://t.co/2Ia2DLjWxb
Ontario Genomics @ontariogenomics
7K Followers 2K Following Our Vision: Healthy Lives, Healthy Economy, Healthy Planet Through Collaborative Genomics Innovations. Instagram: ontariogenomics LinkedIn: Ontario Genomics
TCHResearchNews @TCHResearchNews
1K Followers 340 Following Resource for media & associations to receive latest Texas Children's Hospital research news. For inquiries contact [email protected]
Harris Health System @harrishealth
5K Followers 210 Following We deliver high-quality healthcare, create a healthier community & strive to be one of the best healthcare systems in the U.S. Follow ≠ endorsement
McGovern Med School @McGovernMed
11K Followers 283 Following The John P. and Kathrine G. McGovern Medical School's mission is to provide the highest quality of education/training of future physicians for Texas.
UTMB Health @utmbhealth
10K Followers 395 Following Official Twitter account for the University of Texas Medical Branch, the first academic health center in Texas
UHDowntown @uhdowntown
7K Followers 710 Following Founded in 1974, the University of Houston-Downtown is a public, four-year institution in the heart of downtown Houston.
Analysis and benchmarking of small and large genomic variants across tandem repeats go.nature.com/4bffVCr
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…
Another focus of @GREGoR_research is supporting research and researchers that bring unique expertise as well as funding to promote an increase in workforce diversity in genomic research 🧬 #DNADay #Genomics Learn more about the 2023 and 2024 awardees: gregorconsortium.org/opportunity/aw…
Patients, family members/caregivers, & clinicians wanting to learn more about the GREGoR Research Centers and research participation should take a look on our website for more info🧬 #DNADay #Genomics Learning Hub: gregorconsortium.org/learning Collaboration: gregorconsortium.org/about/collabor…
Join us @WashUGenetics 12-1 PM CDT for a seminar by the distinguished Dr. Fritz Sedlazeck @sedlazeck of @BCM_HGSC @RiceCompSci on #Genomics #StructuralVariations. Don't miss the chance to hear from this exceptional speaker! @WUSTLmed @GenomeInstitute @WUSTL
Join @WashUGenetics today @ Noon CST in Connor Auditorium when Dr. Fritz Sedlazeck @sedlazeck, presents (in-person only) “Genomic Structural Variations and beyond 1”, hosted by Dr. Peter Jin @PETERJIN999
Join @WashUGenetics today @ Noon CST in Connor Auditorium when Dr. Fritz Sedlazeck @sedlazeck, presents (in-person only) “Genomic Structural Variations and beyond 1”, hosted by Dr. Peter Jin @PETERJIN999
If you're interested in the disparity analyses for P/LP, B/LB, CI, and even variants that do not have any clinical designation check out our 30+ supplemental figures. Oh also we prove all the disparities using a second orthogonal statistical method as well🙃 (25/25)
Jennifer E. Posey (@poseypod), Sharon E. Plon (@splon), James R. Lupski (@LupskiLab), Richard A. Gibbs (@BCM_HGSC), Lea M. Starita (@lea_starita), Carla Daniela Robles-Espinoza (@daniela_oaks), Willow Coyote-Maestas (@willowcoyote), Irene Gallego Romero (@ee_reh_neh) (24/25)
Special thanks to all the co-authors: Shawn Fayer (@ShawnFayerGC), Sriram Pendyala (@treependyala), Mason Post, Divya Kalra, Karynne Patterson (@KarynneElaine), Eric Venner, Lara A. Muffley (@LaraMuffley), Douglas M. Fowler (@dougfowler42), Alan F. Rubin (@rubin_af),... (23/25)
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)
Also really excited to announce that this project is the first of hopefully many to come from the NHGRI’s (@genome_gov) new cross-consortia efforts! @MikePazin @meandertail (21/25)
Likely hundreds of thousands of individuals of non-European-like genetic ancestry have had inequitable variant interpretations due to this bias in computational predictors. (20/25)
While AI bias is well acknowledged in science, its impact in clinical genetics towards variant classification and patient care is not well described. This paper presents hard data across multiple datasets demonstrating the effects of AI bias on VUS reclassification. (19/25)
This suggests the impact of computational predictor and allele frequency evidence codes towards VUS reclassification is not equitable for the two superpopulation groupings and, in part, describes the gap contributing to VUS disparity for which MAVE evidence compensates. (18/25)
Surprisingly, we did observe a significant difference in essentiality of computational predictor and allele frequency codes. (17/25)
For each variant, we deemed an evidence code as essential if removal reverted the reclassified variant back to VUS. We did not observe any significant difference in essentiality of MAVE codes between individuals of European-like versus non-European-like genetic ancestry. (16/25)
Before reclassification with the MAVE data, there is a significant difference in the number of VUS found in BRCA1, TP53, and PTEN across the three databases, but after there was no statistically significant difference in VUS counts found. (15/25)
We show MAVE data reclassifies VUS at a significantly higher rate in individuals of non-European-like genetic ancestry compared to European-like compensating for the initial VUS disparity. (14/25)
Back to reducing these disparities with MAVEs: we built and benchmarked an automated VUS reclassification pipeline based on ClinGen VCEP rules for BRCA1, TP53, and PTEN with the amendment that we incorporated clinically calibrated MAVE data for functional evidence codes. (13/25)
Inframe indels, synonymous variants, and splice region variants also drive the VUS disparity. All these variant types are amenable to high-throughput saturated assessment by MAVEs. (12/25)
Trends for United States
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