MCD BIO CM156 Lecture Notes - Lecture 2: Human Genetic Variation, Sequence Assembly, Reference Genome
16 Jan 2020
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The human genome 101: obtaining the reference genome sequence, identifying protein coding genes, typing common variants. Had idea for chromosome locations using a physical map. Genome project broke down the physical map down to the nucleotides for examination. Have to shire up entire genome, fix the nucleotides and fix everything together. Whole book: sequence it all and see if there is overlap of the fragments problem: a lot of the human genome is repetitive sequencing. Page-by-page: more systematic approach, take region of genome and sequence it one at a time. Allows for more certainty of while fragments overlap with one another. Variants become useful for technology and identifying certain genes and sequences. Genes can be expressed in one particular cell type. Some of the genes may or may not look similar. On browser: genes with the thicker lines are the ones that get translated. Because exons are a small portion of the genome, they could be anywhere in the genome.
