Isaac García
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isaacgs94.bsky.social
Isaac García
@isaacgs94.bsky.social
90 followers 120 following 8 posts
Postdoctoral Fellow @ Sanger institute
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isaacgs94.bsky.social
Huge thanks to my supervisors @r-rahbari.bsky.social & @hilarycmartin.bsky.social, our collaborators, and most importantly, the @genomicsengland.bsky.social participants for making this research possible! ✨✨
October 28, 2025 at 11:04 AM
isaacgs94.bsky.social
We developed a pipeline to detect these early mosaic mutations in @genomicsengland.bsky.social family trio genomes 👨‍💻🔍👪. They’re rare, but may help to explain otherwise unsolved rare disease cases and refine recurrence risk for families 🧬✨.
Origins of germline mutations and bioinformatic ascertainment of parental postzygotic mutations A. Classification of germline mutations according to mutation timing. Postzygotic mutations (PZMs, rows 1–3, bottom to top) can affect both somatic and germline lineages if they occur before segregation of somatic and germline fates (i.e., early PZMs), or be restricted to the germline tissue if they arise in germline progenitors (i.e., germline-confined PZMs). For both categories, the earlier a mutation occurs, the larger the fraction of future gametes that will carry it. In contrast, de novo mutations (DNMs, top row) arise later in life during gametogenesis and affect only a subset of germline progenitors or single gametes. Gametes are represented with sperm cells, however, germline mutations can arise in both the male and female germline. B. Approximate proportions of somatic and germline cells carrying each type of mutation, with the right-hand scale indicating the likelihood of transmission to offspring. C. Overview of this study: analysis of trio WGS data for Mendelian inconsistencies supported by ≥1 ALT read, yielding 1,015 candidate early PZMs (cPZMs) in parents.
October 28, 2025 at 11:04 AM
isaacgs94.bsky.social
All the nitty gritty details in the paper! Many thanks to everyone who was part of this journey, including all of the participants of the 100,000 Genomes project @genomicsengland.bsky.social
May 16, 2025 at 5:47 PM
isaacgs94.bsky.social
We report DNM rate and spectra differences between genetically inferred ancestral populations 🗺️🧬 and an association between smoking behaviour 🚬 and DNM rate.
May 16, 2025 at 5:43 PM
isaacgs94.bsky.social
An awesome collaboration between the @hilarycmartin.bsky.social @r-rahbari.bsky.social & @aylwyn-scally.bsky.social groups
May 16, 2025 at 5:40 PM