ArticleGenome medicine2015
Whole genome prediction for preimplantation genetic diagnosis.
Article in Genome medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 37 citations in OpenAlex.
- Evidence for feasibility of fetal trophoblastic cell-based noninvasive prenatal testing.Prenatal diagnosis · 2016Trial
- Preimplantation genetic testing for polygenic diseases: A novel paradigm in embryo selection.Biochemistry and biophysics reports · 2026Review
- Single-cell omics: experimental workflow, data analyses and applications.Science China. Life sciences · 2025Review
- Research progress and challenges of preimplantation genetic testing for polygenic diseases.Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences · 2023Review
- Single-cell whole-genome sequencing, haplotype analysis in prenatal diagnosis of monogenic diseases.Life science alliance · 2023Article
- Recent advances and application of whole genome amplification in molecular diagnosis and medicine.MedComm · 2022Review
- Article
- Applications of Single-Cell DNA Sequencing.Annual review of genomics and human genetics · 2021Review
- Embryo Screening for Polygenic Disease Risk: Recent Advances and Ethical Considerations.Genes · 2021Article
- Review
- Regulating Preimplantation Genetic Testing across the World: A Comparison of International Policy and Ethical Perspectives.Cold Spring Harbor perspectives in medicine · 2020Review
- Genome sequencing of human in vitro fertilisation embryos for pathogenic variation screening.Scientific reports · 2020Article
- scHaplotyper: haplotype construction and visualization for genetic diagnosis using single cell DNA sequencing data.BMC bioinformatics · 2020Article
- Article
- Haploseek: a 24-hour all-in-one method for preimplantation genetic diagnosis (PGD) of monogenic disease and aneuploidy.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Review
- Tripolar chromosome segregation drives the association between maternal genotype at variants spanning PLK4 and aneuploidy in human preimplantation embryos.Human molecular genetics · 2018Article
- Next-generation molecular diagnosis: single-cell sequencing from bench to bedside.Cellular and molecular life sciences : CMLS · 2017Review
- Germ line genome editing in clinics: the approaches, objectives and global society.Briefings in functional genomics · 2017Review
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundPreimplantation genetic diagnosis (PGD) enables profiling of embryos for genetic disorders prior to implantation. The majority of PGD testing is restricted in the scope of variants assayed or by the availability of extended family members. While recent advances in single cell sequencing show promise, they remain limited by bias in DNA amplification and the rapid turnaround time (<36 h) required for fresh embryo transfer. Here, we describe and validate a method for inferring the inherited whole genome sequence of an embryo for preimplantation genetic diagnosis (PGD).
methodsWe combine haplotype-resolved, parental genome sequencing with rapid embryo genotyping to predict the whole genome sequence of a day-5 human embryo in a couple at risk of transmitting alpha-thalassemia.
resultsInheritance was predicted at approximately 3 million paternally and/or maternally heterozygous sites with greater than 99% accuracy. Furthermore, we successfully phase and predict the transmission of an HBA1/HBA2 deletion from each parent.
conclusionsOur results suggest that preimplantation whole genome prediction may facilitate the comprehensive diagnosis of diseases with a known genetic basis in embryos.
Identifiers
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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.