Description: Thoughts on contemporary life science from a young scientist
Over christmas the Genome Reference Consortium gave all of us doing in silico life-science a wonderful present, or maybe it was just a lump of coal. GRCh38, the newest human reference genome assembly, was released to cheers and jeers abound.
Fig.1: Chromosome 20 Assembly With BWA
Of course, most of us are excited to have up-to-date standards, especially with something like the human reference playing such a pivotal role in clinical adoption of genomics. However, some are lamenting the perhaps inevitable remapping of their NGS reads to this new reference. And it’s completely reasonable to have this worry. Will previous results from samples remain valid once assembled with this new reference, and how different will the sequence alignments be?