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Jan 20, 2022 at 17:54 comment added user438383 Yes - exactly right on both counts.
Jan 20, 2022 at 17:49 comment added Noppawee Apichonpongpan Read3 has two extra C's in the middle, does this imply this person inherited a mutation (or two mutations), specifically, 2 C insertions? It looks like this procedure works because human genomes are largely the same.
Jan 20, 2022 at 17:44 comment added user438383 Yes, the reads are about 25 base-pairs long, and there are sophisticated algorithms to make sure they are aligned correctly, e.g. ncbi.nlm.nih.gov/pmc/articles/PMC2705234
Jan 20, 2022 at 17:43 comment added Noppawee Apichonpongpan Please allow me to ask 2 different questions: How do we know that Read1 is correctly aligned? There are 2 discrepancies. How do we know that Read3 is correctly aligned? Is this all done by statistical/computational methods?
Jan 20, 2022 at 17:38 comment added user438383 In the image, say that we are interested in base pair 114. Read2 is aligned to that position and tells us the genotype at this position. If we do this for two people, then we can compare the sequences on the reads to see if they are the same or different. Does that help?
Jan 20, 2022 at 17:31 comment added Noppawee Apichonpongpan I have accepted this answer although I don't fully understand it. Could you please tell me where I can find out more how "reads covering the 3424234th base-pair on chromosome 10 will be produced and aligned to the same part of the reference genome"? Any textbooks recommendations?
Jan 20, 2022 at 17:30 vote accept Noppawee Apichonpongpan
Jan 20, 2022 at 16:30 history answered user438383 CC BY-SA 4.0