Hi,
I have data from a target enrichment on a few human genes, of course sequenced through NGS. Enrichment, sequencing and data analysis were performed by a private genomic service.
In the VCF file some variants show an allele frequency around 1-2%, but their locus is called as heterozygous. Isn't the variant presence too low to call it as heterozygous?
I am not too acquainted with these kind of analysis, so I am a little confused by this. Could someone please help me out?
Thanks a lot in advance.
Marco
I have data from a target enrichment on a few human genes, of course sequenced through NGS. Enrichment, sequencing and data analysis were performed by a private genomic service.
In the VCF file some variants show an allele frequency around 1-2%, but their locus is called as heterozygous. Isn't the variant presence too low to call it as heterozygous?
I am not too acquainted with these kind of analysis, so I am a little confused by this. Could someone please help me out?
Thanks a lot in advance.
Marco
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