Comment by kaathewise | Hacker News Reader

Comment by kaathewise | Hacker News Reader

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One of the problems is that a lot of bioinformatics formats nowadays have to hold so much data that most text editors stop working properly. For example, FASTA splits DNA data into lines of 50-80 characters for readability. But in FASTQ, where the '>' and '+' characters collide with the quality scores, as far as I know, DNA and the quality data are always put into one line each. Trying to find a location in a 10k long line gets very awkward. And I'm sure some people can eyeball Phred scores from ASCII, but I think they are a minority, even among researchers.

Similarly, NEXUS files are also human-readable, but it'd be tough to discern the shape of inlined 200 node Newick trees.

When I was asking people who did actual bioinformatics (well, genomics) what some of their annoyances when working with the bioinf software were, having to do a bunch of busywork on files in-between pipeline steps (compressing/uncompressing, indexing) was one of the complaints mentioned.

I think there's a place in bioinformatics for a unified binary format which can take care of compression, indexing, and metadata. But with that list of requirements it'd have to be binary. Data analysis moved from CSVs and Excel files to Parquet, and I think there's a similar transition waiting to happen here

My hypothesis is that bioinformatics favors text files, because open source tools usually start as research code.

That means two things. First, the initial developers are rarely software engineers, and they have limited experience developing software. They use text files, because they are not familiar with the alternatives.

Second, the tools are usually intended to solve research problems. The developers rarely have a good idea what the tools eventually end up doing and what data the files need to store. Text-based formats are a convenient choice, as it's easy extend and change them. By the time anyone understands the problem well enough to write a useful specification, the existing file format may already be popular, and it's difficult to convince people to switch to a new format.

Totally. A good chuck of the formats are just TSV files with some metadata in header. Setting aside the drawbacks, this approach is both straightforward and flexible.

I think we're seeing some change in that regard, though. VCF got BCF and SAM and got BAM

Yes, most bioinformatics tools are the result of research projects.

However, the most common bioinformatics file formats have actually been devised by excellent software engineers (e.g. SAM/BAM, VCF, BED).

I think it is just very convenient to have text-based formats as you don't need any special libraries to read/modify the files and can reach for basic Unix text-processing tools instead. Such modifications are often needed in a research context.

Also, space-efficient file formats (e.g. CRAM) are often within reach once disk space becomes a pressing issue. Now you only need to convince the team to use them. :)

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