Repeat expansions are responsible for over 40 monogenic disorders, and undoubtedly more pathogenic repeat expansions remain to be discovered. Existing methods for detecting repeat expansions in short-read sequencing data require predefined repeat ...
Egor Dolzhenko +18 more
doaj +1 more source
African rices genome projects : GLASS and irigin : [P129] [PDF]
The GLASS project (GLAberrima ASSembly), jointly between IRD and AfricaRice, aims to sequence de novo the two African NERICA parents, CG14 and TOG5681, representing the two opposite of the glaberrima variability.
Ghesquière, Alain +5 more
core
Whole-genome sequencing of Klebsiella pneumoniae isolates to track strain progression in a single patient with recurrent urinary tract infection [PDF]
Klebsiella pneumoniae is an important uropathogen that increasingly harbors broad-spectrum antibiotic resistance determinants. Evidence suggests that some same-strain recurrences in women with frequent urinary tract infections (UTIs) may emanate from a ...
Minx, Patrick J +3 more
core +5 more sources
Meta‐transcriptome analysis identified FGF19 as a peptide enteroendocrine hormone associated with colorectal cancer prognosis. In vivo xenograft models showed release of FGF19 into the blood at levels that correlated with tumor volumes. Tumoral‐FGF19 altered murine liver metabolism through FGFR4, thereby reducing bile acid synthesis and increasing ...
Jordan M. Beardsley +5 more
wiley +1 more source
Shotgun metagenome data of a defined mock community using Oxford Nanopore, PacBio and Illumina technologies. [PDF]
Metagenomic sequence data from defined mock communities is crucial for the assessment of sequencing platform performance and downstream analyses, including assembly, binning and taxonomic assignment.
Bebout, Brad M +20 more
core
BFC: correcting Illumina sequencing errors [PDF]
Abstract Summary: BFC is a free, fast and easy-to-use sequencing error corrector designed for Illumina short reads. It uses a non-greedy algorithm but still maintains a speed comparable to implementations based on greedy methods. In evaluations on real data, BFC appears to correct more errors with fewer overcorrections in comparison to ...
openaire +2 more sources
Subtype‐specific enhancer RNAs define transcriptional regulators and prognosis in breast cancers
This study employed machine learning methodologies to perform the subtype‐specific classification of RNA‐seq data sets, which are mapped on enhancers from TCGA‐derived breast cancer patients. Their integration with gene expression (referred to as ProxCReAM eRNAs) and chromatin accessibility profiles has the potential to identify lineage‐specific and ...
Aamena Y. Patel +6 more
wiley +1 more source
Permanent Draft Genome Sequence for Frankia sp. Strain Cc1.17, a Nitrogen-Fixing Actinobacterium Isolated from Root Nodules of Colletia cruciata [PDF]
Frankia sp. strain Cc1.17 is a member of the Frankia lineage 3, the organisms of which are able to reinfect plants of the Eleagnaceae, Rhamnaceae, and Myricaceae families and the genera Gynmnostoma and Alnus.
Abebe-Akele, Feseha +10 more
core +2 more sources
Analysis of Illumina Microbial Assemblies [PDF]
Since the emerging of second generation sequencing technologies, the evaluation of different sequencing approaches and their assembly strategies for different types of genomes has become an important undertaken. Next generation sequencing technologies dramatically increase sequence throughput while decreasing cost, making them an attractive tool for ...
Clum, Alicia +6 more
openaire +2 more sources
Interrogating the immune landscape of microsatellite stable RAS‐mutated colon cancer
COLOSSUS project RAS‐mutated MSS colon cancer study explored transcriptomics and immune cell density by immunohistochemistry (IHC), Immunoscore (IS), ISIC/TuLIS scores, mutation counts, and detected different prevalences but similar microenvironment composition across immune markers with clinical relevance for future immunotherapy combination ...
Rodrigo Dienstmann +61 more
wiley +1 more source

