Human genetic variation database, a reference database of genetic variations in the Japanese population. J Hum Genet 61, 547-553 (2016).Higasa K, Miyake N, Yoshimura J, Okamura K, Niihori T, Saitsu H, et al. Human genetic variation database, a reference database of genetic variations ...
Human Genome Variation is an open-access, online-only peer-reviewed journal publishing important discoveries, observations and analysis about research on the human genome, including a searchable online database of genome variants.
Large-scale discovery of novel genetic causes of developmental disorders. Nature 519, 223–228 (2015). Article ADS CAS Google Scholar Firth, H. V. et al. DECIPHER: database of chromosomal imbalance and phenotype in humans using ensembl resources. Am. J. Hum. Genet. 84, 524–533 (2009)...
Understanding the genetic basis of human longevity remains a challenge but could lead to life-extending interventions and better treatments for age-related diseases. Toward this end we developed the LongevityMap (http://genomics.senescence.info/longevity/), the first database of genes, loci, and ...
Conclusion We used the circVAR database to collect SNPs and small insertions and deletions (INDELs) in putative circRNA regions and to identify their potential phenotypic information. To provide a reusable resource for the circRNA research community, we have published all the pre-computed genetic ...
The underlying data as well as a UCSC browser version comparing these sites can be found at the Eicherlab Human Structural Variation Database. Download: Download high-res image (36KB) Download: Download full-size image Figure 3. CNP ACNF and corroboration with other data sources. When ...
SwissVar portal provides access to a collection of single amino acid polymorphisms and diseases in the UniProtKB/Swiss-Prot database 1000 Genomes http://www.internationalgenome.org 1000 Genomes provides a resource of human genetic variation
dbSNP–database for single nucleotide polymorphisms and other classes of minor genetic variation. Genome Res. 1999;9(8):677–9. Article CAS PubMed Google Scholar Augello MA, Hickey TE, Knudsen KE. FOXA1: master of steroid receptor function in cancer. EMBO J. 2011;30(19):3885–94. ...
Genotype–phenotype databases provide information about genetic variation, its consequences and its mechanisms of action for research and health care purposes. Existing databases vary greatly in type, areas of focus and modes of operation. Despite ever larger and more intricate datasets — made possible...
iMETHYL: an integrative database of human DNA methylation, gene expression, and genomic variation Shohei Komaki Yuh Shiwa Atsushi Shimizu Data ReportOpen Access29 Mar 2018 Novel compound heterozygous variants in theLARP7gene in a patient with Alazami syndrome ...