Reference of Whole exome sequecing analysis
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4.1 years ago
Shahzad ▴ 30

Dear all

I am new for WES analysis and want to ask which human reference genome should i download for Whole Exome analysis. Please share a direct link to the genome assembly and also the gtf/gff3 file if it should be used. It is very confusing with so many variants of human genome i.e masked, unmasked, alt, rm, toplevel etc.

Best Regards Shahzad

WES NGS variant calling mutation BWA • 992 views
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Entering edit mode
4.1 years ago

I prefer downloading from iGenomes

This link should have pre-indexed genome files that you require

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