MCNV2 is an R package for the validation and annotation of Mendelian CNVs. It provides tools for preprocessing CNV data, gene annotation, and visualization via a Shiny app.

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 ...

With unmatched scale and diversity, GeneDx Infinity™ powers scientific discovery while enabling the most precise clinical rare disease diagnoses for patients and families today GAITHERSBURG, ...

The art of finding patterns or communities plays a central role in the analysis of structured data such as networks. Community detection in graphs has become a field on its own. Real-world networks, ...

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 ...

Traffic monitoring plays a vital role in smart city infrastructure, road safety, and urban planning. Traditional detection systems, including earlier deep learning models, often struggle with ...

I've used Savana to detect both CNVs and SVs in a tumor-normal pair with 40x coverage (ONT). But when looking at the SV vcf, I find no matching deletion/duplication as the CNV algorithm. For SV, it ...

Abstract: Copy number variation (CNV) is a remarkable manifestation of genomic structural variations that affect human health. However, CNV detection in low coverage and low purity data is one of the ...

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 ...