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Difference in Human reference build p.10 and p.13

Hi, For Human analysis as there has been update in the reference genome (GRCh38)build version from p10 to p13, i observed a drastic change in terms of the genome size as p.10 was 3 GB whereas p13 is 60 GB, what is the reason?

Thanks.

rna-seq rna-seq
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written by bioinfo_ga • bioinfo_ga

i observed a drastic change in terms of the genome size as p.10 was 3 GB whereas p13 is 60 GB,

That is because you are mixing up "primary" assembly with one that contains "alternate haplotypes".

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TOPLEVEL
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These files contains all sequence regions flagged as toplevel in an Ensembl schema. This includes chromsomes, regions not assembled into chromosomes and N padded haplotype/patch regions.

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PRIMARY ASSEMBLY
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Primary assembly contains all toplevel sequence regions excluding haplotypes and patches. This file is best used for performing sequence similarity searches where patch and haplotype sequences would confuse analysis.

• 0 views • link
written by GenoMax GenoMax

ohh i see, ok let me see both the files. Thanks for the help.

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written by bioinfo_ga • bioinfo_ga

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