Echinoderms, such as starfish, sea urchins and sea lilies, use small, flexible, tubular projections called "tube feet" for ...

A statistical model and MCMC algorithm tailored to single-cell copy number profiling from shallow whole-genome DNA sequencing data. SCICoNE reconstructs the history of copy number events in the tumour ...

Cite: Glessner JT, Li J, Liu Y, Khan M, Chang X, Sleiman PMA, Hakonarson H. ParseCNV2: efficient sequencing tool for copy number variation genome-wide association studies. Eur J Hum Genet. 2022 Nov 1.

Creative Commons (CC): This is a Creative Commons license. Attribution (BY): Credit must be given to the creator. Magnetic stirrers, the most widely used and ubiquitous devices for performing chemical ...

Plants recognize pathogens as non-self using innate immune receptors. Receptors on the cell surface can recognize amino acid epitopes present in pathogen proteins. Despite many papers investigating ...

Copy number variations (CNVs) significantly influence the diversity of the human genome and the occurrence of many complex diseases. The next-generation sequencing (NGS) technology provides rich data ...

Copy number variation (CNV) is a very important phenomenon in tumor genomes and plays a significant role in tumor genesis. Accurate detection of CNVs has become a routine and necessary procedure for a ...

There are three key aspects to genetic disease associations: comprehensive variant discovery, accurate allele-frequency determination, and an understanding of the pattern of normal variation and its ...

For the first time, researchers have proven that gene variants associated with red hair, pale skin and freckles are linked to a higher number of genetic mutations in skin cancers. The burden of ...

Investigations of noninvasive prenatal screening for aneuploidy by analysis of circulating cell-free DNA (cfDNA) have shown high sensitivity and specificity in both high-risk and low-risk cohorts.

Human genomes exhibit segmental copy number variation (CNV) at thousands of loci. Rare and de novo deletions and duplications, which are often large (hundreds of kilobases in length), are known risk ...