Episode 331. Investigating myself. Topic: Is it me? For the first episode of this series, I compare my whole genome sequencing to the raw data from my health and ancestry test. How do these two methods differ in assessing genetic information. Are both tests from the same individual? Do they always perfectly match?!
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Methodology notes: Paired-end fastq reads from whole genome sequencing (performed by Nebula genomics) were aligned to hg19 with bwa mem to match the genome version of the raw array calls from the health and ancestry test. The identity of the health and ancestry test will not be revealed. Genotypes at array loci were called with bcftools mpileup. Homozygous calls were interpreted as cases where one allele has an frequency of >0.9. Heterozygous calls were verified where two alleles each show an allele frequency of >= 0.1 and <= 0.9.