Results 91 to 100 of about 47,490 (285)

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

open access: yesInternational Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer   +11 more
wiley   +1 more source

Analysis and comprehensive comparison of PacBio and nanopore-based RNA sequencing of the Arabidopsis transcriptome

open access: yesPlant Methods, 2020
Background The number of studies using third-generation sequencing utilising Pacific Biosciences (PacBio) and Oxford Nanopore Technologies (ONT) is rapidly increasing in many different research areas.
Jiawen Cui   +5 more
doaj   +1 more source

Complete Assembly of the Genome of an Acidovorax citrulli Strain Reveals a Naturally Occurring Plasmid in This Species [PDF]

open access: yes, 2019
Acidovorax citrulli is the causal agent of bacterial fruit blotch (BFB), a serious threat to cucurbit crop production worldwide. Based on genetic and phenotypic properties, A.
Chen, Gong   +6 more
core   +1 more source

Accu16S/AccuITS: Accurate and broadly applicable amplicon sequencing for absolute microbiome quantification

open access: yesiMeta, EarlyView.
Traditional 16S rRNA gene and Internal Transcribed Spacer region amplicon sequencing provides only relative abundance, often leading to biased ecological interpretations. To overcome this limitation, we developed Accu16S/AccuITS, an absolute quantification method for bacterial and fungal amplicons based on synthetic internal spike‐in DNA with known ...
Defeng Bai   +10 more
wiley   +1 more source

Improving PacBio Long Read Accuracy by Short Read Alignment

open access: yesPLoS ONE, 2012
The recent development of third generation sequencing (TGS) generates much longer reads than second generation sequencing (SGS) and thus provides a chance to solve problems that are difficult to study through SGS alone. However, higher raw read error rates are an intrinsic drawback in most TGS technologies.
Kin Fai Au   +3 more
openaire   +4 more sources

Chondroitin sulfate restores muscle mass via gut–muscle axis remodeling through sugar–bile acid metabolism reprogramming

open access: yesiMeta, EarlyView.
The graphical abstract illustrates the molecular mechanism by which chondroitin sulfate (DCS) alleviates glucocorticoid‐induced myopathy through the gut–muscle axis. DCS selectively enriches L. johnsonii Z‐RW, enhancing bshA‐encoded BSH activity to promote bile acid deconjugation and reduce the sugar–bile acid ratio, thereby re‐establishing intestinal ...
Ruiyun Wu   +7 more
wiley   +1 more source

Shotgun metagenome data of a defined mock community using Oxford Nanopore, PacBio and Illumina technologies. [PDF]

open access: yes, 2019
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  

Comparative Analysis of Tandem Repeats from Hundreds of Species Reveals Unique Insights into Centromere Evolution [PDF]

open access: yes, 2012
Centromeres are essential for chromosome segregation, yet their DNA sequences evolve rapidly. In most animals and plants that have been studied, centromeres contain megabase-scale arrays of tandem repeats.
Bradnam, Keith R.   +16 more
core   +4 more sources

Clinical, Genetic, and Imaging Characteristics of SCA27B: Insights from a Large Dutch Cohort

open access: yesMovement Disorders, EarlyView.
Abstract Background Deep intronic GAA repeat expansions in intron 1 of the FGF14 gene were identified in 2023 as cause of late‐onset cerebellar ataxia. Since then, GAA‐FGF14‐related ataxia (SCA27B) has emerged as one of the most common genetic causes of late‐onset cerebellar ataxia.
Teije H. van Prooije   +26 more
wiley   +1 more source

Sequencing the transcriptome of R570 to explore the complexity of the sugarcane genome [W1019] [PDF]

open access: yes, 2020
Sugarcane is a crop of unequivocal importance which can meet requirements for food, feed fiber and fuel. This crop, with a large wealth of genetic resources and a rich breeding history, has only a very nascent genomic history with a monoploid genome ...
Aitken, Karen S.   +12 more
core  

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