ArticleJournal of medical genetics2019
Long-read sequencing and haplotype linkage analysis enabled preimplantation genetic testing for patients carrying pathogenic inversions.
Article in Journal of medical genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A systematic review and meta-analysis of the diagnostic accuracy after preimplantation genetic testing for aneuploidy.PloS one · 2025Pooled it
- Recent advances in the detection technologies for balanced chromosomal rearrangements.Frontiers in genetics · 2026Review
- Meiotic determinants of unbalanced gametogenesis in chromosomal inversion carriers.Journal of human genetics · 2026Article
- Cost-effective and flexible preimplantation genetic testing (PGT) by nanopore adaptive sampling.Journal of nanobiotechnology · 2025Article
- Clinical application of nanopore sequencing for haplotype linkage analysis in preimplantation genetic testing for Duchenne muscular dystrophy.Scientific reports · 2025Article
- Translocation-specific polymerase chain reaction in preimplantation genetic testing for recurrent translocation carrier.Journal of human genetics · 2025Article
- ViLR: a novel virtual long read method for breakpoint identification and direct SNP haplotyping in de novo PGT-SR carriers without a proband.Reproductive biology and endocrinology : RB&E · 2025Article
- Application and Prospects of Long-Read Sequencers for Preimplantation Genetic Testing for Structural Rearrangements.Methods in molecular biology (Clifton, N.J.) · 2025Review
- Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication.Frontiers in genetics · 2025Article
- Nanopore sequencing with T2T-CHM13 for accurate detection and preventing the transmission of structural rearrangements in highly repetitive heterochromatin regions in human embryos.Clinical and translational medicine · 2024Article
- Analysis of complex chromosomal rearrangement involving chromosome 6 via the integration of optical genomic mapping and molecular cytogenetic methodologies.Journal of human genetics · 2024Article
- Proband-independent haplotyping based on NGS-based long-read sequencing for detecting pathogenic variant carrier status in preimplantation genetic testing for monogenic diseases.Frontiers in molecular biosciences · 2024Article
- Application of the PGT-M strategy using single sperm and/or affected embryos as probands for linkage analysis in males with hereditary tumor syndromes without family history.Journal of human genetics · 2023Article
- Nanopore sequencing for detecting reciprocal translocation carrier status in preimplantation genetic testing.BMC genomics · 2023Article
- Genetics in prenatal diagnosis.Singapore medical journal · 2023Review
- Identification of Pathogenic Variants in RPGRIP1L with Meckel Syndrome and Preimplantation Genetic Testing in a Chinese Family.Reproductive sciences (Thousand Oaks, Calif.) · 2022Article
- Uncovering Essential Tremor Genetics: The Promise of Long-Read Sequencing.Frontiers in neurology · 2022Review
- Features and applications of haplotypes in crop breeding.Communications biology · 2021Review
- A comprehensive and universal approach for embryo testing in patients with different genetic disorders.Clinical and translational medicine · 2021Article
- Expanded clinical validation of Haploseek for comprehensive preimplantation genetic testing.Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
Corrections and comments
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Authors and funding
14 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundPreimplantation genetic testing (PGT) has already been applied in patients known to carry chromosomal structural variants to improve the clinical outcome of assisted reproduction. However, conventional molecular techniques are not capable of reliably distinguishing embryos that carry balanced inversion from those with a normal karyotype. We aim to evaluate the use of long-read sequencing in combination with haplotype linkage analysis to address this challenge.
methodsLong-read sequencing on Oxford Nanopore platform was employed to identify the precise positions of inversion break points in four patients. Comprehensive chromosomal screening and genome-wide haplotype linkage analysis were performed based on SNP microarray. The haplotypes, including the break point regions, the whole chromosomes involved in the inversion and the corresponding homologous chromosomes, were established using informative SNPs.
resultsAll the inversion break points were successfully identified by long-read sequencing and validated by Sanger sequencing, and on average only 13 bp differences were observed between break points inferred by long-read sequencing and Sanger sequencing. Eighteen blastocysts were biopsied and tested, in which 10 were aneuploid or unbalanced and eight were diploid with normal or balanced inversion karyotypes. Diploid embryos were transferred back to patients, the predictive results of the current methodology were consistent with fetal karyotypes of amniotic fluid or cord blood.
conclusionsNanopore long-read sequencing is a powerful method to assay chromosomal inversions and identify exact break points. Identification of inversion break points combined with haplotype linkage analysis is an efficient strategy to distinguish embryos with normal or balanced inversion karyotypes, facilitating PGT applications.
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