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!

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.

Publications
A chromosome-level reference genome and pangenome for barn swallow population genomics
Cell Reports, January 31, 2023
Secomandi S … Rhie A … Formenti G
Recombination between heterologous human acrocentric chromosomes
bioRxiv, January 18, 2023
Guarracino A, Buonaiuto S, de Lima LG, Potapova T, Rhie A, Koren S, Rubinstein B, Fischer C, Gerton JL, Phillippy AM, Colonna V, Garrison E
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation
bioRxiv, January 15, 2023
Kolmogorov M … Rhie APhillippy AM … Paten B
Software

Canu

A single molecule sequence assembler for genomes large and small

Mash

Fast genome and metagenome distance and containment estimation using MinHash

Krona

Interactively explore metagenomes and more from a web browser