Hi all,
I 'm confusing about this 2 terms, i already know that in population if frequency >1% the alternative base is called snp and if <1% it called point mutation, but if i sequencing a blood sample and i have a reference genome to align my ngs dataset, how do i know the variant call from software ( e.g samtool ) is snp or point mutation.
Thanks all in advance.
I 'm confusing about this 2 terms, i already know that in population if frequency >1% the alternative base is called snp and if <1% it called point mutation, but if i sequencing a blood sample and i have a reference genome to align my ngs dataset, how do i know the variant call from software ( e.g samtool ) is snp or point mutation.
Thanks all in advance.
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