How do you handle one genomic variant affecting dozens of different rna transcripts and isoforms? How do you handle tissue-specific expression? LD haplotype blocks? Frequency across populations and reference choice? Sample handling affecting read depth? Mixed direction of effects in phenotype-genotype? The critical (and beauty IMO) feature of bioinfo is requiring an understanding of how your dataset can rarely be considered clean and as simple as _observation name_ and _observation value_. To succeed it is usually critical to know a lot about the observation meta data which is not collected in the dataset. Hopefully in the future it will be better curated and less esoteric.
A new generation of bioinformaticians and computational biologists are using rust, go, and the web to create, share and deliver.
Checkout nextclade.org
As soon as you start touching science, everything is important.
- the dna that doesn’t code for proteins but makes up the vast majority of human dna
- the intron regions of genes that are translated into RNA but then sliced out of the RNA and not transcribed into protein and are 5x larger than the coding parts
Those two things alone are absolutely critical to understand to interpret a genome sequence. Of course there is much more.