AIMC Topic: Mosaicism

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Image-based DNA sequencing encoding for detecting low-mosaicism somatic mobile element insertions.

Nature communications
Active mobile elements in the human genome can create novel mobile element insertions (MEIs) in somatic tissues. Detection of somatic MEIs, particularly those with low mosaicism, remains a significant challenge due to sequencing artifacts and alignme...

The morphokinetic signature of human blastocysts with mosaicism and the clinical outcomes following transfer of embryos with low-level mosaicism.

Journal of ovarian research
BACKGROUND: Genetic mosaicism is commonly observed in human blastocysts. Embryos' morphokinetic feature observed from time-lapse monitoring (TLM) is helpful to predict the embryos' ploidy status in a non-invasive way. However, morphokinetic research ...

MosaicBase: A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy Human Individuals.

Genomics, proteomics & bioinformatics
Mosaic variants resulting from postzygotic mutations are prevalent in the human genome and play important roles in human diseases. However, except for cancer-related variants, there is no collection of postzygotic mosaic variants in noncancer disease...