Results 71 to 80 of about 29,607 (257)
Scientific ReportsThe precise profiling of CYP2D6 alleles is critical for identifying patients who are likely to benefit from primaquine therapy, a standard treatment for preventing P. vivax relapse and, as a result, obstacle for malaria elimination.
Thidathip Wongsurawat +10 more
doaj +1 more source
Advanced Science, EarlyView.A patient‐specific, haplotype‐resolved genome framework improves detection and interpretation of somatic variants in hepatocellular carcinoma. Using multi‐platform sequencing, the personalized assembly resolves complex regions including centromeres and MHC/HLA loci, enhances structural variant discovery, and links regulatory alterations to allele ...
Jiazheng Lin +17 more
wiley +1 more source
Oxford Nanopore Sequencing (raw sequence data)
, 2020 Genome Sequencing for outbreaks ...
Ferreira, Fabienne +1 more
openaire +1 more source
Advanced Energy Materials, EarlyView.This work presents lightweight, lignin‐derived carbon fiber current collectors that enable controlled lithium deposition. Structural defects and intermediate‐sized pores stabilize pre‐nucleation quasi‐metallic lithium clusters, promoting uniform lithium plating and stripping.
Samantha L. S. Southern +13 more
wiley +1 more source
Translational Gap in Biomarker Discovery: Tumor Surface Markers Rarely Mirror Circulating Levels
Annals of Gastroenterological Surgery, EarlyView.ABSTRACT Background Tumor‐associated cell surface proteins are frequently proposed as circulating biomarkers for colorectal cancer (CRC) based on their high tumor expression. However, many candidates identified through tissue‐based analyses fail to translate into clinically useful biomarkers.
Junko Mukohyama +9 more
wiley +1 more source
De novo yeast genome assemblies from MinION, PacBio and MiSeq platforms
Scientific Reports, 2017 Long-read sequencing technologies such as Pacific Biosciences and Oxford Nanopore MinION are capable of producing long sequencing reads with average fragment lengths of over 10,000 base-pairs and maximum lengths reaching 100,000 base- pairs.
Francesca Giordano +13 more
doaj +1 more source
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao +122 more
wiley +1 more source
Reliable investigation of DNA methylation using Oxford nanopore technologies. [PDF]
Sci RepOxford Nanopore Technologies (ONT) offers an efficient and effective solution for studying DNA methylation. Both R9.4.1 and R10.4.1 ONT chemistries have been widely used to generate numerous DNA methylation data, making it inevitable to conduct cross-ONT-chemistry methylation analysis.
Doshi R +4 more
europepmc +4 more sources
Animal Models and Experimental Medicine, EarlyView.We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang +14 more
wiley +1 more source
Monoallelic POLR3A Variants Cause Early‐Onset Peripheral Neuropathy
Annals of Neurology, EarlyView.Objective Biallelic variants in genes encoding the RNA polymerase III complex (Pol III) cause a spectrum of neurological disorders primarily affecting the central nervous system. Monoallelic variants have been reported in the POLR3B subunit only, associated with neurodevelopmental disorder, epilepsy, and peripheral neuropathy.
Luiza L. P. Ramos +46 more
wiley +1 more source