ArticleJournal of assisted reproduction and genetics2019
Bayesian model for accurate MARSALA (mutated allele revealed by sequencing with aneuploidy and linkage analyses).
Article in Journal of assisted reproduction and genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 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
10 citing papers in PubMed, 12 citations in OpenAlex.
- Clinical application of an Asian Screening Array-based preimplantation genetic testing workflow for various genetic disorders.Orphanet journal of rare diseases · 2026Article
- Assessing the efficacy of targeted enrichment protocol in PGT-M applications: a comprehensive analysis.Journal of assisted reproduction and genetics · 2025Article
- Preimplantation genetic testing for inborn errors of metabolism: observations from a reproductive genetic laboratory in China.Journal of human genetics · 2025Article
- Molecular diagnosis and preimplantation genetic testing for chromosome 1q21.1 recurrent microduplication.Frontiers in genetics · 2025Article
- Case Report: Preventing X-linked retinoschisis transmission via MARSALA-based PGT-M.Frontiers in ophthalmology · 2025Article
- Preimplantation genetic testing for hereditary hearing loss in Chinese population.Journal of assisted reproduction and genetics · 2023Article
- Establishment of linkage phase, using Oxford Nanopore Technologies, for preimplantation genetic testing of Coffin-Lowry syndrome with aFrontiers in genetics · 2023Article
- Whole Genome Amplification in Preimplantation Genetic Testing in the Era of Massively Parallel Sequencing.International journal of molecular sciences · 2022Review
- Article
- 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
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
Abstract
purposeThis study is aimed at increasing the accuracy of preimplantation genetic test for monogenic defects (PGT-M).
methodsWe applied Bayesian statistics to optimize data analyses of the mutated allele revealed by sequencing with aneuploidy and linkage analyses (MARSALA) method for PGT-M. In doing so, we developed a Bayesian algorithm for linkage analyses incorporating PCR SNV detection with genome sequencing around the known mutation sites in order to determine quantitatively the probabilities of having the disease-carrying alleles from parents with monogenic diseases. Both recombination events and sequencing errors were taken into account in calculating the probability.
resultsData of 28 in vitro fertilized embryos from three couples were retrieved from two published research articles by Yan et al. (Proc Natl Acad Sci. 112:15964-9, 2015) and Wilton et al. (Hum Reprod. 24:1221-8, 2009). We found the embryos deemed "normal" and selected for transfer in the previous publications were actually different in error probability of 10
conclusionThe error probability of PGT-M can be significantly reduced by using the Bayesian statistics approach, increasing the accuracy of selecting healthy embryos for transfer with or without a proband sample.
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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.