I’ve been aligning various datasets and throwing them through BEST. GenomeMiner has given me free credit to do this on their platform, and setup the tools for me there. So I recommend checking it out.
I wanted to compare previous datasets to some Illumina data. So grab a random HG002 fastq from the PanGenome project.
The results are largely unsurprising. But it was interesting to look at some HiSeq data and see all those lovely (reasonably well calibrated) Q scores:
Here are the yield plots. BEST assigns a emQ of 75 to perfect reads, which here is the bulk of the data:
Overall the error rate seems very low, slightly lower than the previous PacBio dataset:
The identity here is actually 0.9988. So 99.88% accurate. 0.12% error rate, somewhere around Q29.
More or less what I would except to see!
Also… Century of Biology has like… 100x the subscribers I have here… so please subscribe to bitsof.bio!
Datasets here:
HG002_HiSeq30x_subsampled_R1.fastq.gzhttps://s3-us-west-2.amazonaws.com/human-pangenomics/index.html?prefix=NHGRI_UCSC_panel/HG002/hpp_HG002_NA24385_son_v1/ILMN/downsampled/
The notes here describes this as:
Whole-genome data, downsampled to ~30x PCR-free Illumina 150bp (HG002, HG003, and HG004) to match the expected production data available for the 1000 genome samples (produced at the NYGC: ~30x 150 bp PE Illumina reads from the 2504 1KG samples (using ~450bp fragment size))
I aligned only the first read and used Dorado aligner (Minimap) which is consistent with previous runs.




