Here are some frequent phrases or acronyms or anything that really requires a definition.
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1000 Genomes Project:
aCGH: array-based Comparative Genomic Hybridization, a way to detect copy number variations genome wide. In short, you flourescently label your DNA one color, a reference DNA another color, and then you throw it all on a chip, and then analyze the colors you see. Generally you'll see both--the reference sequence has the same amount of DNA that your DNA sequence. Some spots might only have one color, indicating that there is more actual physical DNA in that sample than the other, implying a deletion of that genomic region. Key word here is "comparative" you're working under a lot of assumptions, mainly that everyone is naturally copy number two. There's a lot of funny interpretations for this data, and the technology isn't really that great, in my opinion. More to come.
ASDs: Autism Spectrum Disorders, the official term to encompass the disorder also known as Autism.
CNVs: Copy Number Variations, variations in the number of copies of a region of DNA (containing or not containing genes) in the genome. We naturally assume that everyone has two copies of any one region of DNA. (Remember? We're diploid organisms--one copy from mom, one copy from dad--allegedly) As it turns out, this might not always be true. Variations in copy number of areas of the genome can be from 1-100kb+. Or bigger. Trisomy 21 (Down Syndrome) is a CNV (albeit a big one). There's a whole extra copy of chromosome 21, implying that for every gene and regulatory element located on chromosome 21, that person will have 3 copies.
dbSNP:
GWAS: Genome Wide Association Studies, this might need a little more than a short definition. Larger post/dedication coming soon.
PMID: PubMedID, a handy, short-hand way of referring to papers quickly without lengthy titles or et als. Just scoot on over to PubMed, type or paste that number in the search box, and your paper of interest will appear. Actually I think you can just google PMIDs too. Ah yes. You can also just google "pmid your number" and you'll get there just as fast. Cool, huh? I like these for easy ways to point people in the right direction. Referencing in an email, or on a Powerpoint slide. This definitely would not fly for official citations, but it's good enough for the rest of us.
Sanger sequencing
