ArticleNPJ genomic medicine2025
Identification of cryptic breakpoints through single-tube long fragment read whole genome sequencing based on preimplantation genetic testing.
Article in NPJ genomic medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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
3 citing papers in PubMed.
- [Application of optical genome mapping technology in the genetic diagnosis of a family with a cryptic complex chromosomal balanced translocations].Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2026Article
- Underrecognized triploidy and genome-wide uniparental disomy in human blastocysts revealed by a concurrent preimplantation genetic testing approach.Human reproduction open · 2026Article
- Long-read genome sequencing resolves the breakpoints of a chromosome 8;22 balanced translocation in NF2-related schwannomatosis.Scientific reports · 2025Article
Corrections and comments
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Authors and funding
13 authors.
Funding
Abstract
This study utilized single-tube long fragment read whole genome sequencing (stLFR WGS) to identify cryptic chromosomally balanced translocations in preimplantation genetic testing (PGT), aiming to improve outcomes for couples experiencing recurrent pregnancy loss (RPL). G-banded karyotyping initially revealed normal results for Family 1 and a reciprocal translocation for Family 2. However, PGT's low-coverage WGS uncovered recurrent copy number variations (CNVs) that contradicted the initial findings. Further analysis using stLFR WGS and Sanger sequencing precisely located the breakpoints, revealing a balanced translocation between chromosomes 7 and 13 in Family 1's male and a complex translocation involving chromosomes 9, 10, and 11 in Family 2's female. By selecting non-carrier embryos for transfer, the study resulted in successful births of healthy infants. These findings highlight the critical role of PGT in detecting concealed chromosomal rearrangements and demonstrate stLFR WGS as an effective diagnostic tool for breakpoint identification, significantly impacting reproductive decisions for couples with cryptic balanced translocations and RPL.
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Registered trials
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