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Power BI resources for reading and visualizing bioinformatics and genomics files

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bioPower BI

Josh Crittenden and Colby T. Ford, Ph.D.

Resources for reading and visualizing bioinformatics and genomics data using Microsoft Power BI.

Using the following M (Power Query) scripts and Power BI examples, you can easily read in various unique file types commonly found in genomics.

File Parsers

Filetype Specification Directory Notes
.vcf https://samtools.github.io/hts-specs/VCFv4.3.pdf \vcf
.fastq http://maq.sourceforge.net/fastq.shtml \fastq For analysis, this file's sequences should likely be aligned.
.sam https://samtools.github.io/hts-specs/SAMv1.pdf \sam
.bam https://samtools.github.io/hts-specs/SAMv1.pdf \bam Requires the Rsamtools R package.
.gff https://m.ensembl.org/info/website/upload/gff3.html \gff3
.bgen https://www.well.ox.ac.uk/~gav/bgen_format/spec/latest.html \bgen Requires the rbgen R package.
Work in progress...

Blog Post

To view our post on BlueGranite's Blog, click here: https://www.bluegranite.com/blog/reading-bioinformatics-and-genomics-files-in-power-bi

YouTube Demo

To view our short demo using these template scripts, click here: https://youtu.be/rC1TLm2UbNg