Hello,
I am relatively new to the field of NGS so I will appreciate any help with data analysis.
I have a vcf file sent to me from the center that performed whole-exome sequencing on our patient. This file, however, contains homozygous variants on both X and Y chromosomes of the patient which are not located on PAR regions. So, I am not sure how to explain this and what to make of it.
Sequencing was performed on illumina Miseq and the FASTQ file was analyzed by GATK. Also, the patient's karyotype is normal.
Arvand
I am relatively new to the field of NGS so I will appreciate any help with data analysis.
I have a vcf file sent to me from the center that performed whole-exome sequencing on our patient. This file, however, contains homozygous variants on both X and Y chromosomes of the patient which are not located on PAR regions. So, I am not sure how to explain this and what to make of it.
Sequencing was performed on illumina Miseq and the FASTQ file was analyzed by GATK. Also, the patient's karyotype is normal.
Arvand
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