ArticleNature communications2024
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.
Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed.
- Concordant mtDNA heteroplasmy between trophectoderm and inner cell mass supports blastocyst-stage PGT-mt for m.14487T>C.Journal of assisted reproduction and genetics · 2026Article
- PEStimate: predicting offspring disease risk after polygenic embryo screening.Bioinformatics (Oxford, England) · 2026Article
- Article
- Risk factors associated with meiotic errors in blastocysts with mosaic results on biopsy.Human reproduction open · 2026Article
- Preimplantation genetic testing for cardiomyopathies: a case series illustrating the clinical and technological perspective.European heart journal. Case reports · 2025Article
- Universal preimplantation genetic testing for monogenic disease (Karyomapping): diagnosis of >1000 unique disorders with no detected misdiagnoses.Human reproduction (Oxford, England) · 2025Article
- Article
- Artificial intelligence-simplified information to advance reproductive genetic literacy and health equity.Human reproduction (Oxford, England) · 2025Observational
- Deconvolving the methodological madness that is PGT-A.Journal of assisted reproduction and genetics · 2025Article
- Reproductive Choices in Haemoglobinopathies: The Role of Preimplantation Genetic Testing.Genes · 2025Review
- Long-read whole-genome sequencing-based concurrent haplotyping and aneuploidy profiling of single cells.Nucleic acids research · 2025Article
- Reproductive options and genetic testing for patients with an inherited cardiac disease.Nature reviews. Cardiology · 2025Review
- Identification of cryptic breakpoints through single-tube long fragment read whole genome sequencing based on preimplantation genetic testing.NPJ genomic medicine · 2025Article
- APCAD Part 2: A Novel Method for Detection of Meiotic Aneuploidy in Preimplantation Embryos.Genes · 2025Article
- Screening embryos for polygenic disease risk: a review of epidemiological, clinical, and ethical considerations.Human reproduction update · 2024Review
- Aligning genotyping and copy number data in single trophectoderm biopsies for aneuploidy prediction: uncovering incomplete concordance.Human reproduction open · 2024Article
Corrections and comments
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Authors and funding
29 authors.
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Abstract
High-throughput sequencing technologies have increasingly led to discovery of disease-causing genetic variants, primarily in postnatal multi-cell DNA samples. However, applying these technologies to preimplantation genetic testing (PGT) in nuclear or mitochondrial DNA from single or few-cells biopsied from in vitro fertilised (IVF) embryos is challenging. PGT aims to select IVF embryos without genetic abnormalities. Although genotyping-by-sequencing (GBS)-based haplotyping methods enabled PGT for monogenic disorders (PGT-M), structural rearrangements (PGT-SR), and aneuploidies (PGT-A), they are labour intensive, only partially cover the genome and are troublesome for difficult loci and consanguineous couples. Here, we devise a simple, scalable and universal whole genome sequencing haplarithmisis-based approach enabling all forms of PGT in a single assay. In a comparison to state-of-the-art GBS-based PGT for nuclear DNA, shallow sequencing-based PGT, and PCR-based PGT for mitochondrial DNA, our approach alleviates technical limitations by decreasing whole genome amplification artifacts by 68.4%, increasing breadth of coverage by at least 4-fold, and reducing wet-lab turn-around-time by ~2.5-fold. Importantly, this method enables trio-based PGT-A for aneuploidy origin, an approach we coin PGT-AO, detects translocation breakpoints, and nuclear and mitochondrial single nucleotide variants and indels in base-resolution.
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