We resequenced the genomes of the Mishima Battery strains and performed a comparative genomic analysis with dbSNP data. More than 81 million nucleotide coordinates were identified as variant sites due to the large genetic distances among the mouse subspecies; 8,062,070 new SNP sites were detected ...
variant harmonizationRecent years have seen a boom in the application of the next‐generation sequencing technology to the study of human disorders, including Autism Spectrum Disorder (ASD), where the focus has been on identifying rare, possibly causative genomic variants in ASD individuals. Because ...
Polymorphic copy number variations (CNVs) represent an important subset of potentially functional disease-associated variation (Mikhail2014; Usher and McCarroll,2015). While HGMD does not wish to replicate the excellent curatorial work of other resources (e.g. the Database of Genomic Variantshttp://...
The genome browser (Figure 1d) provides graphical views of the genomic location of SNVs with locations of known genes and other SNVs in dbSNP. We constructed a public database of genomic variants with allele frequencies for the Japanese population. Variant databases for the Japanese population to...
Population genetics analysis demonstrates that the Korean population is a distinct ethnic group comparable to other discrete ethnic groups in Africa and Europe, providing a rationale for such independent genomic datasets. Indeed, KOVA conferred 22.8% increased variant filtering power in addition to Exome...
We detected about 16 CNVs per individual and the ratio of loss to gain events is 2:1. The majority of the CNVs are of low frequency (<10%), and 40% are rare (<1%). In each population, 20% of the CNVs are not previously catalogued in the Database of Genomic Variants (DGV). ...
The work of genomes mapping has produced genomic maps with varying resolution, available for the human genome and for a large number of organisms of medical genetic interest frequently used as models (such as fruit fly, yeast, mouse and C. elegans). These data have often been integrated and ...
type of databases, there are no specific field experts to maintain them, but they rather include published data for causative genomic variants, their distribution, and references, mostly using automated data (text) mining routines. Each causative genomic variant is entered only once in order to ...
. We then annotated these variants with respect to functional consequences from more than 60 genomic data sources to develop a database, named VarCards (http://varcards.biols.ac.cn/), by which users can conveniently search, browse and annotate the variant- and gene-level implications of given...
Cancer Systems Biology, Technical University of Denmark, 2800, Lyngby, Denmark Cancer Structural Biology, Danish Cancer Institute, 2100, Copenhagen, Denmark Repository associated to the publication: MAVISp: A Modular Structure-Based Framework for Genomic Variant Interpretation Matteo Arnaudi, Ludovica Beltr...