PubMed Identifier. A standard identifier for scientific articles, as indexed by the US National Library of Medicine.

for a more comprehensive glossary, visit NIH's Genetics Home Reference Glossary

AIMs are the subset of genetic markers that differ in allele frequencies across different populations of the world. Most variations are shared among populations, so for most loci the most common allel [..]

Traditional definition: alternate forms of a gene, composed of one or more SNPs. More loosely: a SNP. For example, at a given position along a chromosome, most people might have the DNA base "A&q [..]

Autosomal DNA.

Chromosomes 1, 2, ... 22. atDNA does not include the sex-determining chromosomes (X and Y) or mtDNA (mitochondrial DNA).

An inherited disease based on mutations in the autosomal chromosomes (those other than the X and Y), where only one non-working allele leads to the disease. Each child of a parent carrying such an all [..]

An inherited disease based on mutations in the autosomal chromosomes (those other than the X and Y), where two non-working alleles lead to the disease. Each child of two carrier parents has a 25% chan [..]

The statistics involved in medical and epidemiological studies, which now includes many genomic studies. Medpage has an excellent Guide to Biostatistics.

An individual who has a single copy of a disease-causing variant but who typically doesn't show any signs of that disease. Generally, for classic Mendelian diseases with recessive inheritance, if [..]