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Human Mutation is a peer-reviewed medical journal of human genetics published by Wiley-Liss on behalf of the Human Genome Variation Society. It first appeared in 1992. The founding editors-in-chief were Haig H. Kazazian and Richard G.H. Cotton. Cotton served until his death in 2015, latterly with Garry R. Cutting, who became sole EIC. [1]
In 2017, NCBI stopped support for all non-human organisms in dbSNP. [3] As of build 153 (released in August 2019), dbSNP had amassed nearly 2 billion submissions representing more than 675 million distinct variants for Homo sapiens. a) Various sources submit data, and each variation is assigned a unique submitted SNP number ID (ss#).
GeneMatcher is an online service and database that aims to match clinicians studying patients with a rare disease presentation based on genes of interest.When two or more clinicians submit the same gene to the database, the service matches them together to allow them to compare cases.
Mutation Research is a peer-reviewed scientific journal that publishes research papers in the area of mutation research which focus on fundamental mechanisms underlying the phenotypic and genotypic expression of genetic damage. There are currently three sections: Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis
The submissions are then registered to the public database, where the entries can be filtered for haplotypes, contributors or accession numbers. All population data published in forensic journals as FSI: Genetics or International Journal of Legal Medicine [3] are required to be validated by the YHRD custodians and are subsequently included in ...
The human mitochondrial molecular clock is the rate at which mutations have been accumulating in the mitochondrial genome of hominids during the course of human evolution. The archeological record of human activity from early periods in human prehistory is relatively limited and its interpretation has been controversial.
Human Genetics is a peer-reviewed medical journal covering all aspects of human genetics, including legal and social issues. It was established in 1964 by Arno Motulsky and Friedrich Vogel as the German-language Humangenetik, obtaining its current title in 1976. [1] It is published by Springer Science+Business Media.
Site-directed mutagenesis is used to generate mutations that may produce a rationally designed protein that has improved or special properties (i.e.protein engineering). Investigative tools – specific mutations in DNA allow the function and properties of a DNA sequence or a protein to be investigated in a rational approach. Furthermore ...