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

The formation and propagation of human Robertsonian chromosomes

September 24, 2025

🚂 The T2T train keeps rolling. Our latest work investigating the structure and cause of Robertsonian chromosomes with the Gerton and Garrison labs is out today in the journal Nature! What’s a Robertsonian chromosome and why do they matter? More info below the break…

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The Q100 preprint!

September 22, 2025

We are delighted to finally announce a preprint describing the Q100 project, where we finished the HG002 genome to near-perfect accuracy: A complete diploid human genome benchmark for personalized genomics

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Publications

see all 236 publications

Reference-guided assembly of metagenomes with MetaCompass

Cell Reports Methods, September 26, 2025

Luan T, Cepeda-Espinoza VP, Liu B, Bowen Z, Ayyangar U, Almeida M, Koren S, Treangen TJ, Porter A, Pop M

The formation and propagation of human Robertsonian chromosomes

Nature, September 24, 2025

de Lima LG, Guarracino A, Koren S, Potapova T, McKinney S, Rhie A, Solar SJ, Seidel C, Fagen BL, Walenz BP, Bouffard GG, Brooks SY, Peterson M, Hall K, Crawford J, Young AC, Pickett BD, Garrison E, Phillippy AM, Gerton JL

A complete diploid human genome benchmark for personalized genomics

bioRxiv, September 21, 2025

Hansen NF … Rhie A … Antipov D … Pickett BD … Rautiainen M … Solar SJ, Sweeten AP … Koren S … Phillippy AM

Software

see all 23 projects

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