Joanna Kaplanis
@queenjobo.bsky.social
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Genomic Data Scientist @GenomicsEngland
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...
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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...
https://www.medrxiv.org/content/10.1101/2025.03.12.25323745v1
11 months ago
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reposted by
Joanna Kaplanis
Vladimir (Vova) Seplyarskiy
about 1 year ago
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...
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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...
https://www.medrxiv.org/content/10.1101/2025.01.03.25319979v1.article-metrics
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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
add a skeleton here at some point
about 1 year ago
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