MCD BIO CM156 Chapter Notes - Chapter Paper 1: Exome Sequencing, Reference Genome, Genetic Linkage
16 Jan 2020
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Note: read the paper multiple times for efficiency. Abstract usually has the answers to the paper questions, or at least the outline of it. Snp: single-nucleotide polymorphisms, different from the reference, prevalence must be 1% within the population, dimorphic, evenly distributed throughout the genome. Single-nucleotide variant: general term, if you have someone"s sequence that is different from the control. Linkage analysis allows snps to have a variety of information on what the sequence is around them. Captured the exons, mechanism is different from the paper. 1. cut the dna into small pieces: add adapters to the dna to identify them, hybridized genomic dna to the chip and wash everything else away, check it out. How many times a single nucleotide shows up in the reading through overlapping. 1b error rate gets higher as the reads get longer. Because if it"s heterozygous there might be an error. 1 of them had inbreeding leading to more homozygous variants.
