Jan 5, 2021 · We set out to analyze the CNV profiles of over 10,000 Chinese pediatric patients from multiple centers and to evaluate the yield of clinically pathogenic CNVs in different pediatric medical...

We defined the pCNV yields and profiles of the Chinese pediatric patients with different medical conditions and uncovered differences in the frequency and phenotypic diversity of genomic disorders between Chinese and Western patients.

Nov 23, 2024 · We propose a new framework for association analysis that directly models an individual’s entire CNV profile within a genomic region. This framework represents an individual’s CNVs using a CNV profile curve to capture variations in CNV length and dosage and to bypass the need to predefine CNV loci.

Here, we review the major approaches that have been used to routinely detect CNVs, ranging from cytogenetics to the latest sequencing technologies, and then cover their specific features. Keywords: copy number variation, karyotyping, chromosome microarray analysis, long-read and short-read sequencing. 1. Introduction.

Genome-wide assessment of copy number variants (CNVs), including losses (deletions) and gains (duplications and triplications), is recommended as a first-tier approach for the postnatal evaluation of individuals with intellectual disability, developmental delay, autism spectrum disorder, and/or multiple congenital anomalies, as well as for prena...

Jul 8, 2019 · Accurate CNV profiles using SMURF-seq. To demonstrate the utility of SMURF-seq, we generated CNV profiles of normal diploid and highly rearranged cancer genomes. The mapped fragments were grouped into variable length “bins” across the genome and bin counts were used to generate CNV profiles as described in [19, 20].

1 day ago · Copy number variation (abbreviated CNV) refers to a circumstance in which the number of copies of a specific segment of DNA varies among different individuals’ genomes. The individual variants may be short or include thousands of bases.

View gene-centric CNV profile collected from healthy individuals and multiple cancer types. Featuring CNV profile in cancer. Discover key-genes that were frequently duplicated or deleted in a particular cancer. Find your desired biomarker. Discover candidate genes that best represents population or cancer specific CNV.

Mar 31, 2025 · EMcnv processes CNV calls from multiple profiles, refines their boundaries, and merges overlapping regions into unified CNVRs. This approach leverages breakpoints at the start and end of CNVs to define key regions, ensuring that all overlapping CNVs detected by different tools are grouped into a single CNVR . Figure 4 ...

Oct 15, 2021 · Here, we report a high-throughput scRNA-seq analysis pipeline that provides paired CNV profiles and transcriptomes for single cells, enabling exploration of the effects of CNVs on cellular programs.