Hope Tanudisastro
@htanudisastro
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MD-PhD student @Sydney_Uni and @GarvanInstitute Centre for Population Genomics | studying STRs in the @dgmacarthur lab
Sydney, Australia
Joined June 2023
📢 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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RT @joe_pickrell: New project! . There's now a steady stream of discoveries of rare, high-impact genetic variants coming from resources lik….
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RT @andganna: Leena Peltonen School of Human Genetics in full-swing!. @beryl_bbc @GosiaTrynka @dgmacarthur @bpasaniuc @tuuliel @hilsomartin….
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RT @davidrliu: In @NatureGenet we report that base editing of trinucleotide repeats (TNRs) reduces somatic repeat expansions in Huntington’….
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Looking forward to attending #ozsinglecell2025. I’ll be sharing some findings on tandem repeats #TRs in single cell contexts using TenK10K Phase 1 on Thursday at 11:55.
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RT @alanmej55130600: Thrilled to share my latest work on somatic instability in X-linked Dystonia Parkinsonism. This is part of a large….
biorxiv.org
X-linked dystonia parkinsonism (XDP) is a progressive adult-onset neurogenerative disorder caused by the insertion of a SINE-VNTR-Alu (SVA) retrotransposon in TAF1 gene. One element of the SVA is a...
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RT @davidrliu: In a medical milestone, a customized base editor was developed, characterized in human and mouse cells, tested in mice, stud….
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RT @SashaGusevPosts: Nice! Environmentally responsive eQTLs are enriched for being more distal and for constrained genes relative to conven….
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RT @doctorveera: Complete view of de novo mutation rate across the genome estimated from a four-generation pedigree using five complementar….
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RT @NTFabiano: Having your phone on your desk or in your pocket undercuts cognitive performance - even if you don't use it. Put it in anot….
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RT @tuuliel: Our vision for Precision Omics Initiative Sweden (PROMISE) is now out in Nature Medicine! By boosting data-driven precision om….
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RT @zhou_jingtian: 1/10 Excited to share our latest - the first whole-body map of both DNA methylation and 3D genome at single-cell resolut….
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RT @AH_AlbertHenry: 🚨 Our latest GWAS of heart failure subtypes is now out in Nature Genetics! . A massive global….
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The TenK10K Phase 1 dataset is out! A mammoth effort to generate and analyze paired WGS + scRNA-seq at scale - already yielding exciting insights, with many more to come.
📢 new preprint alert: So so excited to share our analysis on the impact of common and rare variants on single-cell gene expression in blood, using WGS and scRNA-seq data from nearly 2,000 individuals and 5.4m cells as part of TenK10K phase 1 🧬🧵👇 (1/n)
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RT @saorisakaue: 📣Excited to share my last postdoc paper with.@soumya_boston on eQTL mechanisms depending on where the RNA is in the cell!….
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RT @tangming2005: 1/ Many bioinformatics students don’t know much about NGS pre-processing. But trust me, understanding the raw data is ess….
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RT @Psy_Fer_: Only 2 weeks left to get legislation through before the next election in Australia to protect anyone who engages with genetic….
abc.net.au
The federal government vows to ban life insurers from using genetic testing results to refuse cover or hike premiums, but advocates say delays to the policy are harming patients.
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RT @LGMartelotto: What if single-cell analysis of 1,000 samples wasn’t just imaginable—but affordable?. Imagine analyzing 1,000 samples at….
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RT @TimCoorens: The abstract deadline for "Mutations in Time and Space 2025" is in a week! Please register here: ht….
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RT @benweisburd: It was great to be able to contribute the EP400 finding to this paper together with @Gianina_Natoli and @ChiaraFolland ,….
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RT @doctorveera: Profiling tandem repeats variations in the population using 1027 long read genomes from All of Us cohort. All the samples….
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