The Genome Informatics Section develops and applies computational methods for the analysis of massive genomics datasets, focusing on the challenges of genome sequencing and comparative genomics.
As one example, high-quality reference genomes form a fundamental basis of all genomics research, but the construction of these references, known as genome sequencing and assembly, is a difficult process that can leave numerous gaps and errors that affect the accuracy of all downstream analyses. The section aims to improve such foundational processes and translate emerging genomic technologies into practice.
Bioinformatics has a long history of bridging fields, and the incredible advances in genomics have been inextricably linked to similar advances in algorithms and computing. Recognizing this, the section specializes in the development of methods for new genomic technologies and seeks to foster open and interdisciplinary collaboration between the computational, biological and medical sciences for the advancement of global health. Members of the section are at the forefront of these fields and have made important contributions to the problems of genome assembly, whole-genome alignment, read mapping, variant detection, information visualization, microbial forensics and metagenomics.
Another major focus of the section is the development of genomic resources such as the human reference genome. From its initial release in 2000 to further updates through 2020, the human reference genome covered only the euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. Addressing this remaining 8% of the genome, the section assembled the first truly complete sequence of a human genome in 2021, unlocking all regions of the genome to variational and functional studies for the first time. However, this complete genome represents only a single haplotype and does not capture the full diversity of the human genome. This limitation can affect the accuracy of all genomic analyses, especially for underrepresented variants and populations. For the benefits of personalized genomics to be inclusive of everyone, the section is working towards extending the human reference to a pangenome that is more representative of human genomic variation.
Lastly, the section’s continued development of sequencing and assembly technologies has resulted in a flood of newly complete genomes from across the tree of life. The section is now using these whole genomes to study the functional, comparative and population genomics of multiple species at unprecedented resolution. Even for a well-studied species, the de novo assembly of multiple individuals can reveal complex structural variation missed by prior re-sequencing approaches. Characterizing this variation is important for fully understanding the function and evolutionary history of life’s genomic code.
