ArticleGenome research2020
Single-cell analysis of human embryos reveals diverse patterns of aneuploidy and mosaicism.
Article in Genome research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers, 1 of them a synthesis that pooled it.
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Who cites it
82 citing papers in PubMed, 1 synthesis or guideline pooled it, 154 citations in OpenAlex.
- Live birth and other reproductive outcomes of mosaic and euploid embryos: a systematic review and meta-analysis.Journal of assisted reproduction and genetics · 2025Pooled it
- Live imaging of late-stage preimplantation human embryos reveals de novo mitotic errors.Nature biotechnology · 2026Article
- Machine learning-driven decoding of maternal immune signatures in repeated pregnancy loss.PLoS computational biology · 2026Article
- A medium throughput approach for single cell copy number variation sequencing towards efficient application in clinics.Journal of advanced research · 2026Article
- Towards a unified model of aneuploid karyotype dynamics.PLoS genetics · 2026Article
- Assessing concordance of genetic parameters between trophectoderm and inner cell mass in morphologically scored day-5 embryos via NGS.Reproduction & fertility · 2026Article
- Generation of tetraploid organs in mice.Zoological research · 2026Article
- Aneuploidy of chromosome 8 promotes the mesenchymal lineage during cell fate transitions.Science advances · 2026Article
- Introducing the Blastocyst Fragmentation Indicator (BFI): A Novel Time-Lapse Metric for Enhanced Aneuploidy Risk Stratification in Non-Invasive Embryo Assessment.JBRA assisted reproduction · 2026Article
- Reproductive outcomes of mosaic embryo transfers in preimplantation genetic testing for structural rearrangement cycles: a retrospective cohort study.Journal of assisted reproduction and genetics · 2026Article
- Divergent roles of DNA methylation, TRIM28, and p53 surveillance in human embryonic and trophoblast stem cells.bioRxiv : the preprint server for biology · 2025Article
- Article
- Approximate Bayesian computation supports a high incidence of chromosomal mosaicism in blastocyst-stage human embryos.Genetics · 2025Article
- Genome instability in mammalian embryos implications for genome editing, development, and evolution.Current opinion in genetics & development · 2025Review
- HIF1A-mediated pathways promote euploid cell survival in chromosomally mosaic embryos.bioRxiv : the preprint server for biology · 2025Article
- Approximate Bayesian computation supports a high incidence of chromosomal mosaicism in blastocyst-stage human embryos.bioRxiv : the preprint server for biology · 2025Article
- Cell competition eliminates aneuploid human pluripotent stem cells.Stem cell reports · 2025Article
- Exploring and validating the marmoset as a primate model for chromosomal instability in early development.Molecular human reproduction · 2025Article
- Trophectoderm Biopsy: Present State of the Art.Genes · 2025Review
- PGT-A: what's it for, what's wrong?Journal of assisted reproduction and genetics · 2025Article
22 more citing papers are in PubMed but not listed here.
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3 authors at 1 institution in 1 country.
Funding
Abstract
Less than half of human zygotes survive to birth, primarily due to aneuploidies of meiotic or mitotic origin. Mitotic errors generate chromosomal mosaicism, defined by multiple cell lineages with distinct chromosome complements. The incidence and impacts of mosaicism in human embryos remain controversial, with most previous studies based on bulk DNA assays or comparisons of multiple biopsies of few embryonic cells. Single-cell genomic data provide an opportunity to quantify mosaicism on an embryo-wide scale. To this end, we extended an approach to infer aneuploidies based on dosage-associated changes in gene expression by integrating signatures of allelic imbalance. We applied this method to published single-cell RNA sequencing data from 74 human embryos, spanning the morula to blastocyst stages. Our analysis revealed widespread mosaic aneuploidies, with 59 of 74 (80%) embryos harboring at least one putative aneuploid cell (1% FDR). By clustering copy number calls, we reconstructed histories of chromosome segregation, inferring that 55 (74%) embryos possessed mitotic aneuploidies and 23 (31%) embryos possessed meiotic aneuploidies. We found no significant enrichment of aneuploid cells in the trophectoderm compared to the inner cell mass, although we do detect such enrichment in data from later postimplantation stages. Finally, we observed that aneuploid cells up-regulate immune response genes and down-regulate genes involved in proliferation, metabolism, and protein processing, consistent with stress responses documented in other stages and systems. Together, our work provides a high-resolution view of aneuploidy in preimplantation embryos, and supports the conclusion that low-level mosaicism is a common feature of early human development.
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