Improve short-read sequencing genome reference bias Giraffe pan-genome mapping tool improves structural variation recognition

" Giraffe " is a new genome mapping algorithm developed by scientists at the University of California, Santa Cruz.

Popular and affordable short-read DNA sequencing.

Although the human genome sequence is almost 99% the same in all humans, there are sporadic differences in the individual letters of the code (single nucleotide variation, SNV); addition (insertion) or omission (deletion) of short fragments-all are Collectively referred to as "indel"; and larger and more complex structural changes, including sequence rearrangements

Giraffe is a pan-genomic short-read sequence mapping tool.

Dr.

It is difficult to find structural variations using a single genome reference, and structural variations play an important role in certain diseases

In this new study, the researchers used publicly available genome data to construct two reference maps of the human genome to evaluate the new tool Giraffe

"This analysis method is not only better, but it is as fast as current methods using linear genome references," said Dr.

Researchers used Giraffe to draw sequence interpretation maps from different groups of 5202 people and determined the genotypes of 167,000 recently discovered structural variations