Results 51 to 60 of about 1,096,418 (305)

Suppressing gain-of-function proteins via CRISPR/Cas9 system in SCA1 cells

open access: yesScientific Reports, 2022
SCAs are autosomal dominant neurodegenerative disorders caused by a gain-of-function protein with toxic activities, containing an expanded polyQ tract in the coding region.
Mariangela Pappadà   +14 more
doaj   +1 more source

Next-Generation Sequencing Strategies [PDF]

open access: yesCold Spring Harbor Perspectives in Medicine, 2018
More than a decade ago, the term "next-generation" sequencing was coined to describe what was, at the time, revolutionary new methods to sequence RNA and DNA at a faster pace and cheaper cost than could be performed by standard bench-top protocols. Since then, the field of DNA sequencing has evolved at a rapid pace, with new breakthroughs allowing ...
Shawn E, Levy, Braden E, Boone
openaire   +2 more sources

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen   +23 more
wiley   +1 more source

Central Nervous System Neuroblastoma, FOXR2‐Activated: A Pooled Analysis of Published Clinical Outcomes

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Background Central nervous system (CNS) neuroblastoma, FOXR2‐activated, is a recently recognized entity in the WHO CNS5 classification, defined by activation of the FOXR2 transcription factor and unique histopathological features. This review synthesizes available literature and pooled clinical data, providing insight into demographics ...
Sudarshawn Damodharan   +1 more
wiley   +1 more source

Accurate long-read transcript discovery and quantification at single-cell, pseudo-bulk and bulk resolution with Isosceles

open access: yesNature Communications
Accurate detection and quantification of mRNA isoforms from nanopore long-read sequencing remains challenged by technical noise, particularly in single cells. To address this, we introduce Isosceles, a computational toolkit that outperforms other methods
Michal Kabza   +6 more
doaj   +1 more source

Soil microbial load modulation improves plant–microbe interactions and bioinoculant efficacy in pathogen-stressed soils

open access: yesFrontiers in Plant Science
Plants establish a close association with a community of microbes naturally living in the soil, known as resident soil microbiome, which typically maintains a dynamic equilibrium that confers resilience against biotic and abiotic perturbations.
Yohannes Ebabuye Andargie   +12 more
doaj   +1 more source

Guidelines for Pediatric Radiotherapy Simulation: A Report From the Children's Oncology Group Radiation Oncology Discipline

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric radiation therapy presents unique challenges compared to adult treatments, including those of immobilization, potential need for sedation, and the critical importance of accurate, reproducible positioning. Additionally, heightened attention to imaging doses is necessary to minimize long‐term toxicity in survivors.
Parham Alaei   +17 more
wiley   +1 more source

Skewer: a fast and accurate adapter trimmer for next-generation sequencing paired-end reads

open access: yesBMC Bioinformatics, 2014
Adapter trimming is a prerequisite step for analyzing next-generation sequencing (NGS) data when the reads are longer than the target DNA/RNA fragments.
Hongshan Jiang   +3 more
semanticscholar   +1 more source

Next-Generation Sequencing and Emerging Technologies [PDF]

open access: yesSeminars in Thrombosis and Hemostasis, 2019
AbstractGenetic sequencing technologies are evolving at a rapid pace with major implications for research and clinical practice. In this review, the authors provide an updated overview of next-generation sequencing (NGS) and emerging methodologies. NGS has tremendously improved sequencing output while being more time and cost-efficient in comparison to
Kishore R. Kumar   +2 more
openaire   +3 more sources

Personalized Zebrafish Models for Fusion‐Positive Pediatric Sarcomas

open access: yesPediatric Blood &Cancer, EarlyView.
ABSTRACT Clinical sequencing efforts have revolutionized our approaches to categorizing pediatric cancers in real time. This has dramatically improved our ability to profile pediatric tumors, identify actionable vulnerabilities, and influence clinical care.
Lisa H. Hall   +2 more
wiley   +1 more source

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