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Joanna Kaplanis @queenjobo.bsky.social · 14/03/2025

Thank you to all the co-authors who contributed to this work, especially Prasanth Sivakumar, Dasha Deen, and Dalia Kasperaviciute (who aren't on BlueSky), and a big thank you to the participants and families whose data made this study possible!

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Joanna Kaplanis @queenjobo.bsky.social · 14/03/2025

This work highlights the importance of evaluating each gene prior to inclusion in genomic screening and how understanding the proportion of samples with prioritised variants is crucial for service design

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Joanna Kaplanis @queenjobo.bsky.social · 14/03/2025

Our approach prioritised variants in ~80% of participants from the 100,000 Genomes Project and NHS Genomic Medicine Service with diagnostic variants in genes included in the Generation Study.

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Joanna Kaplanis @queenjobo.bsky.social · 14/03/2025

We estimate that 3–5% of samples will have prioritised variants requiring manual review by clinical scientists, and that <1% will be taken forward for orthogonal testing and genetic confirmation.

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Joanna Kaplanis @queenjobo.bsky.social · 14/03/2025

Assessing validity of automated variant prioritisation on a gene level led to changes in rules used in variant prioritisation and conditions included.

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Joanna Kaplanis @queenjobo.bsky.social · 14/03/2025

Genomic sequencing offers the opportunity to screen for hundreds of rare conditions with a single test. We describe the automated variant prioritisation approach for the Generation Study, which is evaluating genomic newborn screening in 100,000 babies across England.

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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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