Isaac García
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isaacgs94.bsky.social
Isaac García
@isaacgs94.bsky.social
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Postdoctoral Fellow @ Sanger institute
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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