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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.
Human somatic variations are somatic mutations (mutations that occur in somatic cells) both at early stages of development and in adult cells. These variations can lead either to pathogenic phenotypes or not, even if their function in healthy conditions is not completely clear yet.
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.
Haplogroup C is a major Y-chromosome haplogroup, defined by UEPs M130/RPS4Y711, P184, P255, and P260, which are all SNP mutations.It is one of two primary branches of Haplogroup CF alongside Haplogroup F.
The molecular personality of each USH1c mutation determines whether the resulting phenotype is nonsyndromic deafness or Usher syndrome. [6] [11] A common mutation that causes Usher syndrome is a single nucleotide polymorphism (SNP) at nucleotide 216 that replaces the base guanine with the base adenine, creating a frameshift with a deletion of ...
Haplogroup K or K-M9 is a genetic lineage within human Y-chromosome DNA haplogroup. A sublineage of haplogroup IJK, K-M9, and its descendant clades represent a geographically widespread and diverse haplogroup. The lineages have long been found among males on every continent except Antarctica.
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