Results 91 to 100 of about 29,607 (257)

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

Gamma SARS‐CoV‐2 variant of concern infection repercussions on pregnancy outcomes: A translational cohort study

open access: yesInternational Journal of Gynecology &Obstetrics, EarlyView.
Abstract Objective This study conduct viral genome sequencing among severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2)‐infected pregnant and postpartum individuals, and investigates disease severity and maternal and perinatal outcomes considering variant of concern (VOC) and non‐VOC groups.
Guilherme M. Nobrega   +27 more
wiley   +1 more source

The plant microbiome: From ecological foundations to precision microbial engineering for sustainable agriculture

open access: yesiMeta, EarlyView.
From ecological principles to precision engineering of plant microbiomes for sustainable agriculture. The plant holobiont integrates diverse microbial niches (including rhizosphere, endosphere, phyllosphere, seed, and aerial‐root mucilagesphere), host genetics (namely M genes), and host metabolites. Furthermore, molecular dialogues, including rhizobial
Mi Wei   +26 more
wiley   +1 more source

Microbial DNA methylation links rumen transcriptional activity to methane emission divergence in dairy cows

open access: yesiMeta, EarlyView.
Genome‐resolved methylomics uncovers the first DNA methylation atlas of the dairy cow rumen microbiome. Microbial DNA methylation profiles diverge between low‐ and high‐ methane‐emitting dairy cows despite limited taxonomic differences. Differential methylation is linked to transcriptional variation in genes involved in carbon metabolism, hydrogen ...
Xinyue Zhang   +9 more
wiley   +1 more source

Laparoscopic Methylene Blue Photodynamic Therapy for Intraabdominal Infection: A Preclinical Feasibility Study in a Rabbit Model of Perforated Appendicitis

open access: yesLasers in Surgery and Medicine, EarlyView.
ABSTRACT Objectives Perforated appendicitis commonly results in intra‐abdominal infection requiring prolonged antibiotic therapy. Intraoperative antimicrobial adjuncts are limited, and photodynamic therapy (PDT) may provide a targeted, resistance‐independent approach.
Timothy M. Baran   +7 more
wiley   +1 more source

From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long‐Read Transcriptomics

open access: yesMovement Disorders, EarlyView.
Abstract Background CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...
Charles Wade   +8 more
wiley   +1 more source

Frequency of ZFHX3‐Mediated Spinocerebellar Ataxia 4 in a US Undiagnosed Ataxia Cohort

open access: yesMovement Disorders, EarlyView.
Abstract Background Spinocerebellar ataxia 4 (SCA4) is a late‐onset dominant ataxia with neuropathy caused by exonic GGC repeat expansion in the ZFHX3 gene thought to originate from a Swedish founder event. The GC‐rich expansion is highly thermodynamically stable, posing challenges for standard clinical genetic testing methods.
Annie Chen   +320 more
wiley   +1 more source

NanoR: A user-friendly R package to analyze and compare nanopore sequencing data.

open access: yesPLoS ONE, 2019
MinION and GridION X5 from Oxford Nanopore Technologies are devices for real-time DNA and RNA sequencing. On the one hand, MinION is the only real-time, low cost and portable sequencing device and, thanks to its unique properties, is becoming more and ...
Davide Bolognini   +4 more
doaj   +1 more source

Reproducibility and accuracy of bacterial methylome profiling using Oxford Nanopore Technologies nanopore sequencing platform

open access: yesMicrobial Genomics
Background. Oxford Nanopore Technologies (ONT) enables direct methylome profiling using the Dorado basecaller, but the comparative performance of ONT-only versus hybrid-assembly reference-based methylation calling, particularly regarding inter-operator variability, remains understudied.
Taylor Schababerle   +9 more
openaire   +2 more sources

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