carrier screening
Oxford Nanopore, Dubai Health Partner on Carrier Screening Using Nanopore Sequencing
The collaborators aim to demonstrate the capabilities of nanopore sequencing in samples with known mutations and in a prospective study to identify disease carriers.
Genomic testing for almost 1,300 autosomal recessive or X-linked conditions appeared to be feasible, well accepted, and informative for couples in Australia.
Emirati Genome Program Yields New Public Health Initiatives, Including Premarital Carrier Screening
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The United Arab Emirates is employing three short- and long-read sequencing platforms to enable these initiatives, which also include PGx testing and HLA typing.
Proposed Fetal Genome Sequencing Actionable Findings List Could Improve Rare Disease Diagnosis
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A subset of gene variants from the ACMG secondary findings list for adults and children may also prove actionable at fetal stages of development.
New Nanopore Sequencing Method Improves Clinical Genomic Breakpoint Detection, Carrier Screening
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Developed by researchers in Saudi Arabia, NanoRanger deploys partial restriction digests, inverse PCR, and long-read sequencing for base-resolution breakpoint analysis.