Joanna Kaplanis
@queenjobo.bsky.social
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...
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...
www.medrxiv.org
March 14, 2025 at 10:00 AM
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...
Reposted by Joanna Kaplanis
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...
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...
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...
www.medrxiv.org
January 6, 2025 at 1:06 AM
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...
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...
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
📣 Big news! Our tag-team effort on common variants in rare neurodevelopmental conditions is now out in Nature 📣
Co-first authoring with the brilliant Qinqin Huang🌟—proof that teamwork does make the dream work. 💪 www.nature.com/articles/s41...
Co-first authoring with the brilliant Qinqin Huang🌟—proof that teamwork does make the dream work. 💪 www.nature.com/articles/s41...
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Alt: a couple of cartoon characters standing next to each other with one wearing a purple earring
media.tenor.com
November 21, 2024 at 9:21 AM
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