Spectre is a long read copy number variation (CNV) caller. Spectre is designed to detect large CNVs (>100kb) in a couple of minutes depending on your hardware. To calculate CNVs Spectre uses primarily ...

Performances in N.Y.C. Advertisement Supported by Critic’s Pick The 21-year-old pianist turned the great set of variations into the story of a young man’s maturation from innocence to experience. By ...

Mitochondrial DNA (mtDNA) quantification is crucial in understanding mitochondrial dysfunction, which is linked to a variety of diseases, including cancer and neurodegenerative disorders. Traditional ...

Recent pan-cancer analysis revealed the global pattern and potential aetiologies of copy number variation signatures in human cancers, particularly those derived from non-hematopoietic tissues. In ...

Accurate prediction of CYP2D6 activity from genotype data is of utmost importance as CYP2D6 pharmacogenetic (PGx) testing is increasingly used to guide drug therapy. However, given the complexity of ...

conda create -n scoiget_env python=3.8.20 conda activate scoiget_env ## Step1: Installing PyTorch # For GPU (CUDA 12.1) pip install torch==2.2.2+cu121 --extra-index ...

Copy number variation (CNV) refers to an increase or decrease in the number of copies of a DNA sequence in a genome, which can subsequently be implicit in promoting aberrant gene expression patterns ...

A researcher's mathematical modeling approach for brain imaging analysis reveals links between genes, brain structure and autism. A multi-university research team co-led by University of Virginia ...

The main forms of human genomic variation are shown in Figure 1. These include SNPs, which are qualitative in nature and involve only a single nucleotide, and a family of genomic changes collectively ...

Senior and Reviewing Editor; Max Planck Institute for Biology Tübingen, Germany In the interests of transparency, eLife publishes the most substantive revision requests and the accompanying author ...