A Nextflow-based, containerized pipeline for copy number variation (CNV) and loss of heterozygosity (LoH) analysis from Illumina genotyping arrays, with interactive HTML-based visualization through ...
SNF-CLIMEDIN: A Randomized Trial of Digital Support and Intervention in Patients With Advanced Non–Small Cell Lung Cancer. A Hellenic Cooperative Oncology Group Study Shallow whole-genome sequencing ...
The purpose of this retrospective study was to investigate the imaging phenotype and genetic variation of three fetuses with FLT4 gene mutations in three families. Ultrasound images of the three ...
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Copy number variation (CNV) is a common form of genomic structural variation arising from genome sequence rearrangements, which primarily involves variations in the copy number of large genomic ...
The following is a summary of “Mitochondrial DNA copy number variation in asthma risk, severity, and exacerbations,” published in the April 2025 issue of Journal of Allergy and Clinical Immunology by ...
Abstract: DNA copy number variations (CNV) carry information on the mis-regulation of DNA replication in cancer cells, making the study of CNVs an indispensable component of cancer genome analysis.
Mitochondrial DNA (mtDNA) quantification is crucial in understanding mitochondrial dysfunction, which is linked to a variety of diseases, including cancer and neurodegenerative disorders. Traditional ...
Using a population-genomic approach, we identified copy number variants (CNVs)—stretches of DNA that can be either present, absent, or in multiple copies—displaying parallel signatures of local ...
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