Scientists Decode Entire Human Genome: Why This Matters

The new paper, which is titled “The complete sequence of a human genome,” explains the genome released in the year 2000 covered only the euchromatic fraction of the genome, and left important heterochromatic regions unfinished. The difference between euchromatic and heterochromatic regions is that the first is lightly packed and accessible for transcription, while the other is heavily compressed and difficult to transcribe.

“It turns out that these genes are incredibly important for adaptation,” Evan Eichler, a Howard Hughes Medical Institute investigator at the University of Washington and research leader of the study says (via CNN). “They contain immune response genes that help us to adapt and survive infections and plagues and viruses. They contain genes that are … very important in terms of predicting drug response.”

Scientists revealed that by addressing the heterochromatic regions, the map now has 3.055-billion base-pair sequences. These include the gaps in assemblies for all chromosomes except Y and about 200 million new base pairs of sequences introduced. The study also corrected errors in prior references. According to the paper, the complete map unlocks “complex regions of the genome to variational and functional studies”.