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

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 [..]

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

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 [..]

A grouping of DNA samples intended to generally represent Europeans for the purposes of establishing how common a given SNP is, the CEU samples are from CEPH Utah residents with ancestry from northern [..]

A grouping of DNA samples intended to generally represent Europeans for the purposes of establishing how common a given SNP is, the CEU samples are from CEPH Utah residents with ancestry from northern [..]

The physical units of heredity; long linear strands of DNA. Humans normally have 46 chromosomes (23 inherited from Dad, 23 from Mom).

Confidence Interval. The range of possible values within which the true value is expected to lie at a particular level of confidence. If not stated, the level of confidence is usually 95% certainty.