Genome Informatics Section

Our section develops and applies computational methods for the analysis of massive genomics datasets, focusing on the challenges of genome sequencing and comparative genomics. We aim to improve such foundational processes and translate emerging genomic technologies into practice.

People

News

It's finally finished!

March 31, 2022

Today is a big day. One that was 30+ years in the making. We have finally uncovered every last bit of the human genome! I wanted to celebrate by writing a behind the scenes tribute to the amazing members of the T2T consortium, but that will have to wait. The past two years have been a whirlwind and I need some time to recuperate. For now, just the basics: links to the assembly, the browser, and the papers. And don’t worry, we didn’t forget chrY this time!

[ … entire post ]

We are hiring!

October 27, 2021

Update: These positions have now been filled The Genome Informatics Section is hiring! Come join our outstanding team at the NIH’s National Human Genome Research Institute and contribute to the development of new reference genomes and computational methods for DNA sequencing and analysis. Will consider postdoc, PhD, and engineer applications. More information and application instructions follow below.

[ … entire post ]

Publications

see all 210 publications

Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation

Nature Methods, September 14, 2023

Kolmogorov M … Rhie A … Phillippy AM … Paten B

The genome of the colonial hydroid Hydractinia reveals their stem cells utilize a toolkit of evolutionarily shared genes with all animals

bioRxiv, August 27, 2023