ArticleScientific reports2020
Genome sequencing of human in vitro fertilisation embryos for pathogenic variation screening.
Article in Scientific reports, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 28 citations in OpenAlex.
- PEStimate: predicting offspring disease risk after polygenic embryo screening.Bioinformatics (Oxford, England) · 2026Article
- Accuracy of Magnetic Resonance Spectroscopy-Detected Fumarate Peak for Diagnosing Fumarate Hydratase Deficiency in Uterine Leiomyomas: A Prospective Study.Korean journal of radiology · 2026Article
- Precise exome analysis of blastocyst biopsy scale samples using primary template-directed amplification.BMC genomics · 2026Article
- Article
- Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cells.Nucleic acids research · 2025Article
- Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations.Human reproduction update · 2024Review
- Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.Nature communications · 2024Article
- SHaploseek is a sequencing-only, high-resolution method for comprehensive preimplantation genetic testing.Scientific reports · 2023Article
- Pluripotent Stem Cell-Derived In Vitro Gametogenesis and Synthetic Embryos-It Is Never Too Early for an Ethical Debate.Stem cells translational medicine · 2023Article
- Retinitis Pigmentosa: Current Clinical Management and Emerging Therapies.International journal of molecular sciences · 2023Review
- Mysteries and unsolved problems of mammalian fertilization and related topics.Biology of reproduction · 2022Review
- Preimplantation Genetic Testing for Monogenic Conditions: Is Cell-Free DNA Testing the Next Step?Molecular diagnosis & therapy · 2021Review
- Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Fertility technologies and how to optimize laboratory performance to support the shortening of time to birth of a healthy singleton: a Delphi consensus.Journal of assisted reproduction and genetics · 2021Article
- Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Whole-genome sequencing of preimplantation human embryos to detect and screen for genetic diseases is a technically challenging extension to preconception screening. Combining preconception genetic screening with preimplantation testing of human embryos facilitates the detection of de novo mutations and self-validates transmitted variant detection in both the reproductive couple and the embryo's samples. Here we describe a trio testing workflow that involves whole-genome sequencing of amplified DNA from biopsied embryo trophectoderm cells and genomic DNA from both parents. Variant prediction software and annotation databases were used to assess variants of unknown significance and previously not described de novo variants in five single-gene preimplantation genetic testing couples and eleven of their embryos. Pathogenic variation, tandem repeat, copy number and structural variations were examined against variant calls for compound heterozygosity and predicted disease status was ascertained. Multiple trio testing showed complete concordance with known variants ascertained by single-nucleotide polymorphism array and uncovered de novo and transmitted pathogenic variants. This pilot study describes a method of whole-genome sequencing and analysis for embryo selection in high-risk couples to prevent early life fatal genetic conditions that adversely affect the quality of life of the individual and families.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.