GREGoR Consortium
The GREGoR 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.
https://gregorconsortium.org/
@cgonzagaj.bsky.social
Human Geneticist/Genomicist working on Mendelian & rare genetic disorders to enable Precision Medicine. Opinions are my own. @cgonzagaj everywhere 🐦🦣☁️🧵
@moezdawood.bsky.social
@moorejille.bsky.social
Assistant Prof. @ UMass Chan: studying gene regulation using deep learning & multi-omic data
@alexphd.bsky.social
Husband, Father, Brother. Principial Investigator for the Institute for Genomic Medicine at Nationwide Children's Hospital. Director of VICC (cancervariants.org), Variation Representation lead of the GA4GH. NHGRI Genomic Innovator. I 👍 open science.
@leandrosboukas.bsky.social
Epigenetics/Gene regulation, Human Genetics, Population Genetics. Resident at Children's National Hospital. Previously: Post-doc w/ Kasper Hansen & Hans Bjornsson; PhD (Johns Hopkins); MD (Greece)
@riyavsinha.bsky.social
CS PhD Student @ Stanford | Research focused on understanding genetic diseases
@emilyalsentzer.bsky.social
Assistant Professor at Stanford. Trustworthy, deployable ML/NLP for healthcare.
@humanpangenome.bsky.social
Diverse Human References Drive Genomic Discoveries for Everyone
@varianteffect.bsky.social
Advancing the promise of the Human Genome Project by interpreting the landscape of human genetic variation. https://www.varianteffect.org https://www.linkedin.com/company/atlas-of-variant-effects-alliance
@pattidickson.bsky.social
Medical geneticist, mom, wife. Researching lysosomal diseases. Division Chief at Washington University in St. Louis, Missouri. UDN, IGVF, PE-CGS, GIC, COMBINE. Opinions, likes, and follows do not represent WashU
@igvfconsortium.bsky.social
@natgenet.nature.com
Nature Genetics is a monthly journal publishing high impact research in genetics and genomics. Part of @natureportfolio.bsky.social Repost/like=interesting/relevant, not necessarily endorsement.
@natrevgenet.nature.com
Publishing reviews and commentaries across the fields of genetics and genomics. Part of Springer Nature and Nature Portfolio. https://www.nature.com/nrg/
@natureportfolio.nature.com
Nature Portfolio’s high-quality products and services across the life, physical, chemical and applied sciences is dedicated to serving the scientific community.
@genomeresearch.bsky.social
A leading peer-reviewed genomics journal. https://genome.cshlp.org Submit: http://submit.genome.org
@dgmacarthur.bsky.social
Genomics, big data, open science, diversity. Director of the Centre for Population Genomics, focused on building a more equitable future for genomic medicine. Opinions my own.
@hdashnow.bsky.social
Asst. Prof, CU Biomedical Informatics. #RareDisease #Genomics #STRs #bioinformatics #WomenInSTEM. Parent. Aussie. she/her Views my own. https://dashnowlab.org/ Img by familydestinationsguide (CC-BY)
@cgrochowski.bsky.social
@johngorzynski.bsky.social
Veterinary Clinician/Scientist-- Genome Sequencing and Analysis RUNNING/CYCLING/SWIMMING
@kvg.bsky.social
Director of Computational Biology, Data Sciences Platform at the Broad Institute.
@aaronquinlan.bsky.social
Origins and consequences of genome mutation; software for genomic discovery. Prof. and Chair of Human Genetics at U. of Utah. https://www.genetics.utah.edu/ http://quinlanlab.org
@sambaxter.bsky.social
@amarderstein.bsky.social
Human geneticist studying cancer at MSK. Prev. postdoc at Stanford and BS + PhD at Cornell. avid skier, runner, and Yankee fan.
@tassimes.bsky.social
❤️ doc / researcher on the genomics of cardiovascular diseases / Stanford University School of Medicine / Palo Alto VA / Habs fanatic / 🇬🇷🧬+🇨🇦🍼+🇺🇸🧳 / Artery my own.
@medhat.bsky.social
Postdoc, HGSC, Baylor college of medicine. Interests: Bioinformatics | SVs | SNVs | comparative genomics | data science
@poseypod.bsky.social
Physician-scientist, Adult genetics, Human genetics research, Baylor College of Medicine. Thoughts expressed = my own.
@chloereuter.bsky.social
Genetic Counselor, Clinical Assistant Professor @ Stanford Medicine cardiovascular genetics | rare disease | all things genomics and multiomics | she/her | views my own
@hcmefford.bsky.social
Physician scientist @ St. Jude (neuro)genetics | genomics epilepsy | rare disease | precision medicine
@soumyakundu.bsky.social
CS PhD Candidate at Stanford. Working at the intersection of Machine Learning, Regulatory Genomics, and Complex Disorders
@vijayganesh.bsky.social
MD, PhD; Neuromuscular Medicine at Brigham and Women’s Hospital; Rare disease research at Broad Institute
@jessicakain.bsky.social
genetics PhD candidate 👩🏻💻🔬 Stanford, CA 📍🌲 metabolomics & multi-omics for rare disease 🧫🧬🥼
@raungar.bsky.social
Postdoc at @StanfordBioethx Genetics PhD @StanfordMed, BS @UArkansas elsi / rna-seq / rare disease / multi-omics / chronic illness / x-chromosome
@claucarvalho.bsky.social
Scientist, Mom. Human Genetics, DNA Variation, Rare Genetic Diseases. Brasil&USA.
@petrinlab.bsky.social
Assistant Professor, UIowa, scientist, mom, writer, #Genetics #Epigenetics #orofacialclefts #DNAmethylation #cleftlipandpalate #twinsresearch #Hawkeye 🧬🔬🧫
@sinamajidian.bsky.social
On the academic job market | How are species compared to one another across different genomic regions? Postdoc at Langmead Lab, Johns Hopkins | Comparative #genomics | Phylogeny and indexing at scale | Formerly at UNIL/SIB/WUR | sinamajidian.github.io
@hadleyking.bsky.social
Bioinformatician at UC Irvine Formally at GW SMHS Cavalier King Charles Spaniel lover https://github.com/HadleyKing https://orcid.org/0000-0003-1409-4549
@jsstevenson.bsky.social
Bioinformatics and municipal politics. Radicalized by parenthood in Columbus, Ohio. Views ==(=) my own. https://jsstevenson.github.io
@agrippinatheelder.bsky.social
Scientific research @Illumina. Interests include multiomics, precision medicine, and democratizing genetic testing for all who need it
@jxchong.bsky.social
Associate Professor. UW Center for Rare Disease Research, @MyGene2, Deputy Editor of @HGGAdvances. #raredisease genetics. CovidWA data
@laurensvdwiel.bsky.social
Postdoc in labs of @mwheelermd.bsky.social and @sbmontgom.bsky.social @Stanford - Exploring the 🧬 basis of rare diseases through multi-omic data integration 👨💻| ❤️ Computer Science best practices in biology | https://www.wiel.science
@esbonkowski.bsky.social
Research Genetic Counselor (& Public Health Genetics PhD student) Interests in neurogenetics, bioethics, and precision medicine for kids 🧬🧠💜 Science is real, views are mine (she/her)
@sbmontgom.bsky.social
Stephen Montgomery. Stanford Medicine Professor of Pathology, Genetics, Biomedical Data Science and, by courtesy, Computer Science.