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Joanna Kaplanis

@queenjobo.bsky.social
110 followers 160 following 8 posts

Genomic Data Scientist @GenomicsEngland

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Joanna Kaplanis @queenjobo.bsky.social · 14/03/2025
Our preprint describing and assessing the variant prioritisation approach for genomic newborn screening in the Generation Study @genomicsengland.bsky.social is now on medRxiv www.medrxiv.org/content/10.1...
medrxiv.org
Assessment of the variant prioritisation strategy for genomic newborn screening in the Generation Study
Purpose Genomic sequencing offers the opportunity to screen for hundreds of rare genetic conditions with a single test. To minimise potential negative impact on families and clinical services, it is c...
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Reposted by Joanna Kaplanis
Vladimir (Vova) Seplyarskiy @vseplyarskiy.bsky.social · 06/01/2025
Excited to share our preprint: Cohort-level analysis of human de novo mutations points to drivers of clonal expansion in spermatogonia! We developed methods to uncover drivers of clonal expansions in sperm (CES) using 55k disease trios & gnomAD SNV data. www.medrxiv.org/content/10.1...
medrxiv.org
Cohort-level analysis of human de novo mutations points to drivers of clonal expansion in spermatogonia
In renewing tissues, mutations conferring selective advantage may result in clonal expansions. In contrast to somatic tissues, mutations driving clonal expansions in spermatogonia (CES) are also trans...
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Joanna Kaplanis @queenjobo.bsky.social · 21/11/2024
Impressive work on contribution of common variation to NDD. Not a trivial thing to untangle and really useful FAQ/lay summary. Congrats @qinqinhuang.bsky.social @emiliewigdor.bsky.social @hilarycmartin.bsky.social
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