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I am a medical student and just got involved with a genetic lab and research. I read a lot phrases like: "Although no mutations have been reported in this gene, we think this variant is interesting because the nature of the variant (novel, predicted deleterious, within autozygome).
Can anyone explain it to me?
For a genetic variant:
- novel - Not previously reported in the scientific literature.
- predicted deleterious - There are reasons to suspect the variant could cause abnormal effects in a person. This may be in part from where the variant is located (e.g. what gene), what problems were observed in persons having the variant, and many other considerations. See the "Variant interpretation" section of this paper for more detail.
- in autozygome - "Autozygous" refers to parts of the genome which are identical on both maternal and paternal chromosomes because of common ancestry of the two parents. The autozygome is the collection of all such segments for a person, and is larger in cases of inbreeding, as when the parents are first cousins. Autozygous segments are (usually) entirely homozygous, that is, all alleles are the same since they come from the common ancestor. (In normal segments, there will be a mix of matching and mismatching alleles.) The importance of homozygous alleles, of course, is that a recessive allele will be expressed in the person when both alleles are the same. (Related papers: "Autozygosity mapping with exome sequence data", "Autozygome-guided exome sequencing in retinal dystrophy patients reveals pathogenetic mutations and novel candidate disease genes".)