When sending your saliva in to a direct-to-consumer genetic…

When sending your saliva in to a direct-to-consumer genetic testing company they will perform [1] to look for genetic variants, which requires prior identification of variants of interest and is [2] for companies because it only looks at very specific places in the DNA. The genetic health risk report will determine your [3] which is the increased likelihood of developing a particular disease based on your genetic makeup. Having an increased genetic risk for a disease means that you will [4] be affected by that disease in your lifetime. The [5] will use DNA sequence polymorphisms whose allele frequencies are significantly different in populations from different geographical regions of the world to determine your ancestry. 

[1] are when a DNA segment of one kilobase or larger is pres…

[1] are when a DNA segment of one kilobase or larger is present at a variable copy number in comparison to the reference genome, and encompass [2] nucleotides per genome than SNPs and are [3] likely to cause health problems than SNPs. Common CNV’s in humans are [4] such as Huntington’s disease and spinocerebellar ataxia. Huntington’s disease is caused by a trinucleotide repeat [5] the coding sequence of the gene, while Fragile X syndrome is caused by a trinucleotide-repeat in the [6] region of the gene. The proposed mechanism for trinucleotide-repeat diseases is [7] which is thought to happen more often in regions of repeat during the process of [8].

In 2008, researchers discovered a genetic mutation in a man…

In 2008, researchers discovered a genetic mutation in a man that took place 6,000-10,000 years ago. He that is thought to be the first person to have the mutation that resulted in blue eyes, and would therefore be the source of all blue-eyed humans alive on the planet today.