This paper aims to describe a template to create a successful international registry for rare diseases. We focus mainly on rare hepatic diseases, but lessons from this paper serve other fields in medicine, as well.doi:10.1177/2050640615618042...
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We repeated similar analyses for a cohort of 94 trios that underwent whole-genome sequencing (WGS) to ~30X coverage, as part of the Rare Genomes Project (“Methods”). In order to explore additional options for WGS variant filtering, we considered calls from DeepVariant12that were joint-genoty...
Despite the vaccine’s safety, too few children are getting vaccinated. Areport from the Centers for Disease Control and Preventionreleased in January found overall low rates of vaccination coverage among children and adolescents between 5 and 17 years old. The report als...
Target 3 of the GBF calls for a significant increase in protected area coverage across the globe, setting a target of 30% of land, freshwater, and oceans under protection by 2030 (30x30). Target 3 is complemented and accelerated by targets to halt the human-induced extinction of threatened ...
MYH9-related disease (MYH9-RD) is a rare syndromic disorder deriving from mutations in MYH9, the gene for the heavy chain of non-muscle myosin IIA. Patients present with congenital thrombocytopenia and giant platelets and have a variable risk of developi
Simple, cost-effective chromatin immunoprecipitation sequencing (ChIP-Seq) DNA library preparation, with master mixes and robust multiplex capabilities.
Therefore, preventing infectious diseases caused by these pathogens is a top priority for the health sectors. However, there are currently limited effective drugs to prevent virus infection. For instance, although several antiviral medications are used to avoid HIV infection, their use is limited due...
Genetic & Rare Diseases All Areas Next-generation sequencing for beginners Curious about using NGS in your research? Learn the basics of next-generation sequencing and find tips for getting started. Learn about NGS Techniques Sequencing DNA Sequencing RNA Sequencing High-Throughput Sequencing Library...
For the first time, the application also provides a high-coverage proteome reference map of S. lithotrophicus ES-1 as well as a systematic examination of the correlation between protein and mRNA expression, which will assist mechanistic studies of iron oxidation in the future. Discussion Current ...