ArticleResearch and practice in thrombosis and haemostasis2020
Detection of mosaics in hemophilia A by deep Ion Torrent sequencing and droplet digital PCR.
Article in Research and practice in thrombosis and haemostasis, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 5 citations in OpenAlex.
- Suspected parental gonadal/gonadosomatic mosaicism for a TINF2 mutation in two sisters with dyskeratosis congenita.Frontiers in genetics · 2026Article
- Comparative Analysis of Gut Microbiota between Captive and Wild Long-Tailed Gorals for Ex Situ Conservation.Microorganisms · 2024Article
- Detection of gonosomal mosaicism by ultra-deep sequencing and droplet digital PCR in patients with Emery-Dreifuss muscular dystrophy.Molecular genetics & genomic medicine · 2023Article
- Image Segmentation and Quantification of Droplet dPCR Based on Thermal Bubble Printing Technology.Sensors (Basel, Switzerland) · 2022Article
- Detection of mosaics in hemophilia A by deep Ion Torrent sequencing and droplet digital PCR.Research and practice in thrombosis and haemostasis · 2020Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe occurrence of mosaicism in hemophilia A (HA) has been investigated in several studies using different detection methods.
objectivesTo characterize and compare the ability of AmpliSeq/Ion Torrent sequencing and droplet digital polymerase chain reaction (ddPCR) for mosaic detection in HA.
methodsIon Torrent sequencing and ddPCR were used to analyze 20 healthy males and 16 mothers of sporadic HA patients.
resultsAn error-rate map over all coding positions and all positions reported as mutated in the
conclusionsDeep sequencing using an AmpliSeq/Ion Torrent strategy allows for simultaneous identification of disease-causing mutations in patients and mosaicism in mothers. ddPCR has high sensitivity but is hampered by the need for mutation-specific design.
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