Joanne Berghout
@joanneberghout
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Excited by anything computational genetics or rare disease. Also food. Ex-academic, ex-Pfizer, and now at NIH/NIAID; all opinions my own. She/her/Dr. 🇨🇦
Boston, MA
Joined December 2015
Great news!
A victory for the ID workforce! The National Institute of Allergy and Infectious Diseases (@NIAIDNews) will be increasing interim paylines, or funding cutoff points, for research grants for fiscal year 2025. Learn more: https://t.co/JAXaxL7RNN
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The 55,000 public servants approved for debt cancellation today are workers who have dedicated their lives to giving back to their communities. Now, they are finally earning the relief they are entitled to under the law.
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“The more you learn about genetics the less confident you should be” — Gregory Radick particularly in a context of genetic determinism. #ASHG24
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Really nice work on ctyper (new tool & results) for genotyping copy number variable genes and highly paralogous genes like SMN1/SMN2 from short read. Preprint: https://t.co/dMIAtkWpqF
#ASHG24
biorxiv.org
Genetic analysis of copy number variations (CNVs), especially in complex regions, is challenging due to reference bias and ambiguous alignment of Next-Generation Sequencing (NGS) reads to repetitive...
To catch up on our lab research at ASHG, you can see Walfred Ma's talk on sequence-resolved CNV genotyping in the Decoding Structural Variation at Scale session Wed 8-9:30 4-season ballroom 1, and Bida Gu's poster on our VNTR motif database 1044T. See you there!
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Here in Denver for #ASHG24 ! Starting off strong as usual with some excellent talks yesterday and enjoying the big data scale as we start d2
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📢 New preprint alert: We’ve just published a deep dive into the role of tandem repeats (#TRs) in single-cell gene expression across the immune system, using #WGS and #scRNA-seq data from 1,790 individuals and over 5 million blood cells! 🧬 🧵👇 #repeats #SingleCell 1/9
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GENCODE: massively expanding the lncRNA catalog through capture long-read RNA sequencing | bioRxiv
biorxiv.org
Accurate and complete gene annotations are indispensable for understanding how genome sequences encode biological functions. For twenty years, the GENCODE consortium has developed reference annotat...
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Geoffrey E. Hinton, awarded the 2024 #NobelPrize in Physics, was born in 1947 in London, UK. He earned his PhD in 1978 from the @EdinburghUni, UK. Hinton is currently a professor at the @UofT, Canada. https://t.co/tmocGUNQvg
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Can a computer learn from its mistakes? Can you see penguins from space? And if you build it, will they (woodpeckers) come? Science stories that may save an endangered species, advance satellite surveillance in multiple difficult to reach domains, and neural networks/AI #GGA24
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Excited to be able to attend the @GoldGooseAward 2024! Celebrating federally funded research with a live ceremony in the Library of Congress. #science #sciencefunding See the program here: https://t.co/SZAieQq2YO
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Biggest medical discoveries of the week (🧵) 1/10 A new genetic condition, and insights into the gene that causes it: G protein, GNAI2 Patients' immune cells have impaired migration (videos) and hyperactivation - causing infections and autoimmunity https://t.co/EYWnScDWKW
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LLMs are so emotionally validating. Every time it gets something wrong and I prompt a correction it assumes me I'm making an excellent point and I am absolutely right!
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NIH finally allocates funding for improving and maintaining software. - R03, budget $300k over 2 yrs - Due 12/4/24; 6/4/25 - RFA-OD-24-010 - Building Sustainable Software Tools for Open Science https://t.co/Bcr7nkc84A
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Very cool stuff in here!
Great to see this paper out by @D_Westergaard and colleagues - including myself - leveraging the just jaw-droppingly good combination of the Danish pedigree data (across the entire country!) and their highly detailed EHR.
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📢New from @markjcowley & co 📰SpliceVarDB: A comprehensive database of experimentally validated human splicing variants https://t.co/BOzTrcODso
cell.com
Predicting whether a genetic variant will affect mRNA splicing is challenging. With SpliceVarDB we have consolidated and harmonized experimental splicing evidence for over 50,000 genetic variants...
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Officially registered for #ASHG24 in Denver. Hope to see people there! I'll have a poster if you want to see some of what I do with NIH these days! #genetics #raredisease @NIAIDNews
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Congrats!!
Excited to share our HLA-pQTL study revealing widespread HLA trans effects on protein expression in @uk_biobank- now out at @NatureComms with @xinlisea, @JoshChiou, @soumya_boston, @saorisakaue, @joycebkang, and many more @pfizer! https://t.co/mPzsyqe2UW
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Mind The DNA Gaps: 🧬Psst, the human #genome was never completely sequenced 🧬Unreadable nucleotides make up 7.5% of the human genome 🧬These unreadable nucleotides are contained in 362 regions in the genome (N islands, yellow) Coordinates, Table S74 👉 https://t.co/UKcc2Z9rYp
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