Engineering Large Genomic Rearrangement in Mouse Embryonic Stem Cell for Cancer Gene Discovery.
Sign Up to like & getrecommendations! Published in 2019 at "Methods in molecular biology"
DOI: 10.1007/978-1-4939-8967-6_16
Abstract: Over the last several decades, multiple recurrent chromosomal amplifications and deletions have been detected in a large number of cancers. These regions of amplification and deletion can encompass a few to several hundred genes. Determining… read more here.
Keywords: engineering; large genomic; engineering large; genomic rearrangement ... See more keywords
In and out-contribution of natural transformation to the shuffling of large genomic regions.
Sign Up to like & getrecommendations! Published in 2017 at "Current opinion in microbiology"
DOI: 10.1016/j.mib.2017.04.001
Abstract: Naturally competent bacteria can pull free DNA from their surroundings. This incoming DNA can serve various purposes, ranging from acting as a source of nutrients or DNA stretches for repair to the acquisition of novel… read more here.
Keywords: large genomic; dna; contribution natural; natural competence ... See more keywords
Setting a diagnostic benchmark for tumor BRCA testing: Detection of BRCA1 and BRCA2 large genomic rearrangements in FFPE tissue - A pilot study.
Sign Up to like & getrecommendations! Published in 2021 at "Experimental and molecular pathology"
DOI: 10.1016/j.yexmp.2021.104705
Abstract: PARP inhibitors are used for treatment of tumors lacking function of the double-strand DNA break repair proteins BRCA1 or BRCA2 and are already approved for several cancer types. Thus, it is clinically crucial to determine… read more here.
Keywords: large genomic; brca1; ffpe tissue; brca1 brca2 ... See more keywords
Reviewing the occurrence of large genomic rearrangements in patients with inherited cancer predisposing syndromes: importance of a comprehensive molecular diagnosis
Sign Up to like & getrecommendations! Published in 2022 at "Expert Review of Molecular Diagnostics"
DOI: 10.1080/14737159.2022.2049247
Abstract: ABSTRACT Introduction Hereditary cancer predisposition syndromes are caused by germline pathogenic or likely pathogenic variants in cancer predisposition genes (CPG). The majority of pathogenic variants in CPGs are point mutations, but large gene rearrangements (LGRs)… read more here.
Keywords: occurrence large; comprehensive molecular; large genomic; genomic rearrangements ... See more keywords
Optimizing the performance of large genomic evaluations through data truncation in Angus cattle
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Animal Science"
DOI: 10.1093/jas/skaf382
Abstract: Abstract Single-step GBLUP provides accurate genomic breeding values (GEBV) for populations of any size. However, in large genomic models, computing time is costly, raising the question of whether using the full dataset is truly beneficial… read more here.
Keywords: prediction accuracy; truncation; large genomic; genotyped animals ... See more keywords
Fast and global detection of periodic sequence repeats in large genomic resources
Sign Up to like & getrecommendations! Published in 2019 at "Nucleic Acids Research"
DOI: 10.1093/nar/gky890
Abstract: Abstract Periodically repeating DNA and protein elements are involved in various important biological events including genomic evolution, gene regulation, protein complex formation, and immunity. Notably, the currently used genome editing tools such as ZFNs, TALENs,… read more here.
Keywords: genome editing; large genomic; genomic resources; software ... See more keywords
Abstract 6080: Comprehensive profiling of pathogenic/likely pathogenic large genomic rearrangements in pan cancer samples
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-6080
Abstract: Background: Correlations between large genomic rearrangements (LGRs) and cancer types beyond breast or ovarian cancer have not been sufficiently profiled, likely due to the highly inefficient methods of detecting these types of mutations. Methods: This… read more here.
Keywords: pathogenic likely; pan cancer; large genomic; genomic rearrangements ... See more keywords
Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A
Sign Up to like & getrecommendations! Published in 2019 at "Clinical and Translational Gastroenterology"
DOI: 10.14309/ctg.0000000000000054
Abstract: OBJECTIVES: Loss-of-function mutations of BMPR1A cause juvenile polyposis syndrome (JPS), but large genomic deletions in BMPR1A are rare, reported in few families only, and data regarding the associated phenotype are limited. METHODS: We investigated clinical… read more here.
Keywords: large genomic; genomic deletion; polyposis syndrome; deletion ... See more keywords
Next Generation Sequencing is a Reliable Tool for Detecting BRCA1/2 Mutations, Including Large Genomic Rearrangements.
Sign Up to like & getrecommendations! Published in 2022 at "Clinical laboratory"
DOI: 10.7754/clin.lab.2021.210609
Abstract: BACKGROUND Next-generation sequencing (NGS) has been implemented as a rapid and cost-effective BRCA1/2 test strategy. The Oncomine™ BRCA Research Assay is an NGS-based tool for simultaneous detection of small-scale mutations and large genomic rearrangements (LGRs).… read more here.
Keywords: ngs assay; large genomic; genomic rearrangements; next generation ... See more keywords