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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]
Human genome projects are scientific endeavors that determine or study the structure of the human genome. The Human Genome Project was a landmark genome project. There are numerous related projects that deal with genetic variation (or variation in the encoded proteins), e.g. organized by the following organizations:
The Annual Review of Genomics and Human Genetics defines its scope as covering significant developments in the field of genomics that are relevant to human genetics and the human genome. Included subfields are human genetic disorders, individualized medicine, human genetic variation, the structure and function of genomes, genetic engineering ...
In the human genome project the human genome was successfully sequenced, which provided a reference human genome for comparison of genetic variation. With improving sequencing technologies and the reference genome, more and more variations were found of several different sizes that were larger than 1 kb but smaller than microscopic variants.
Researchers published the first sequence-based map of large-scale structural variation across the human genome in the journal Nature in May 2008. [ 80 ] [ 81 ] Large-scale structural variations are differences in the genome among people that range from a few thousand to a few million DNA bases; some are gains or losses of stretches of genome ...
The Human Variome Project (HVP) is the global initiative to collect and curate all human genetic variation affecting human health. [1] Its mission is to improve health outcomes by facilitating the unification of data on human genetic variation and its impact on human health.
Since the completion of the Human Genome Project advances in human population genetics and comparative genomics enabled further insight into genetic diversity. [7] The understanding about structural variations (insertions/deletions (), copy number variations (CNV), retroelements), single-nucleotide polymorphisms (SNPs), and natural selection were being solidified.
The human genome has approximately 3.1 billion base pairs. [66] The Human Genome Project was started in 1990 with the goal of sequencing and identifying all base pairs in the human genetic instruction set, finding the genetic roots of disease and then developing treatments. It is considered a megaproject.