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- We start with millions of pairs of reads, 100 - 1000 bases each
- Multiple copies of DNA provide multiple coverage by reads
- The problem of genome assembly is to recover the original sequence of
bases of the genome (as much as possible…).
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- The task of the assembly becomes the task of assembling a giant jigsaw
puzzle
- We look for reads whose sequences suggest that they came from the same
place in the genome:
AGTGATTAGATGATAGTAGA
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GATGATAGTAGAGGATAGATTTA
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- Then we put “overlapping” reads together
- AGTGATTAGATGATAGTAGA
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AGATGATAGTAGAGATAGATAGACC
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ATAGATAGACCACTCATCATAC
- AGTGATTAGATGATAGTAGAGATAGATAGACCACTCATCATAC
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- We use read pairing information to order and orient contigs to produce scaffolds
– the final product of assembly
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- Two recent published assemblies of the cow genome: UMD2 and BosTau4
- Segmental duplications were a central theme in BosTau4 genome paper
- UMD2 assembly had many fewer duplications
- We examined the duplications, > 99.5% identity, >5000bp, one copy
in the UMD2 assembly and two copies in the BosTau4
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