Results 151 to 160 of about 54,945 (293)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Bladder exstrophy and epispadias complex (BEEC) is one of the most severe congenital malformations of the urogenital tract, significantly impacting continence, sexual function, and renal function. To date, the only recurrent genetic aberration identified is the 22q.11.2 microduplication, but several candidate regions and genes including ...
Agneta Nordenskjöld +9 more
wiley +1 more source
Generating golden Syrian hamsters with conditional alleles via zygote microinjection of CRISPR/Cas9
Animal Models and Experimental Medicine, EarlyView.We established the first conditional knockout (cKO) model in the golden Syrian hamster by CRISPR/Cas9‐mediated genome editing. Cas9 protein, two sgRNAs, and a donor plasmid carrying loxP‐flanked exon 2 of the ApoF gene were microinjected into one‐cell embryos. The floxed allele was efficiently generated (up to 27%) and transmitted through the germline.
Wei Chen +16 more
wiley +1 more source
novoBreak: local assembly for breakpoint detection in cancer genomes. [PDF]
, 2017 We present novoBreak, a genome-wide local assembly algorithm that discovers somatic and germline structural variation breakpoints in whole-genome sequencing data.
Boutros, Paul +10 more
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Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort
Annals of Neurology, EarlyView.Objective Genomic sequencing leaves >50% of dystonia‐affected individuals without a diagnosis. Where DNA‐oriented approaches remain insufficient, integrating multiomics is essential to advance genome interpretation. Herein, we incorporated RNA sequencing (RNA‐seq) data from 167 patients with dystonia across a range of ages and presentations. Methods We
Alice Saparov +42 more
wiley +1 more source
Arthritis &Rheumatology, Accepted Article.Objectives To verify the pathogenesis of the OGFRL1 loss‐of‐function variant (c.30del, p. F10Ffs*110) identified in a CRMO patient and investigate the underlying mechanism. Methods Whole exome sequencing and Sanger sequencing were performed to identify and confirm the variant.
Wen Xiong +9 more
wiley +1 more source
The power of many: when genetics met yeasts and high‐throughput
Biological Reviews, EarlyView.ABSTRACT In recent years, complex technological capabilities have evolved, driven by the need to solve complex and integrative biological questions through global analyses. New equipment allows the scaling up and automation of processes which previously were carried out on a very limited scale.
Víctor A. Tallada, Víctor Carranco
wiley +1 more source
Evaluation of gene editing in CHO cells using the Cas‐CLOVER system
Biotechnology Progress, EarlyView.Abstract Recent advances in gene editing technologies have transformed the genetic engineering of Chinese hamster ovary (CHO) hosts, enabling the development of cell lines with improved stability and productivity. In this study, we employed the programmable nuclease (PN) Cas‐CLOVER to precisely target the Glutamine synthetase (GS) locus in CHO cells. A
Tiffany McLamarrah +13 more
wiley +1 more source
Advantages of Exome Sequencing Over Panel Testing for Individuals With a Seizure Indication
Annals of the Child Neurology Society, EarlyView.ABSTRACT Objective Our aim was to investigate the advantages of exome sequencing versus panel testing for patients with unexplained seizures. Methods We reviewed the diagnostic outcomes of exome sequencing by a commercial genetics laboratory for more than 16 000 individuals with a clinical history of seizures or suspected seizures.
Michelle M. Morrow +8 more
wiley +1 more source
Environmental and Molecular Mutagenesis, EarlyView.Abstract Exposure levels without appreciable human health risk may be determined by dividing a point of departure on a dose–response curve (e.g., benchmark dose) by a composite adjustment factor (AF). An “effect severity” AF (ESAF) is employed in some regulatory contexts.
Barbara L. Parsons +17 more
wiley +1 more source