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 NHGRI Center for Genomics and Data Science Research is hiring!

August 13, 2024

Join our team and contribute to the development of complete, personalized “telomere-to-telomere” (T2T) genome assemblies and the analysis of previously inaccessible regions of the genome! We are currently accepting applications for center coordinator, bioinformatics engineer/scientist, and postdoctoral researcher.

Going ape for T2T

November 27, 2023

Last year we released complete, gapless, “T2T” sex chromosomes for chimp, bonobo, gorilla, Sumatran orangutan, Bornean orangutan, and siamang gibbon. This December we are proud to announce our latest preprint “The Complete Sequence and Comparative Analysis of Ape Sex Chromosomes”! Over the past year, we have also finished the autosomes for these genomes! The v2.0 assemblies for these species are now available from our T2T-primates project page, and all of the raw HiFi, ONT, Hi-C, and Illumina sequencing data can be found on GenomeArk. This has been a Herculean effort involving nearly everyone in the lab and a large swath of the T2T team. It turns out that finishing six genomes is a lot more work than finishing one! A huge thank you to everyone involved, especially Kateryna Makova for spearheading the project.

Publications
Telomere-to-telomere assemblies of cattle and sheep Y-chromosomes uncover divergent structure and gene content
Nature Communications, September 27, 2024
Olagunju TA, Rosen BD, Neibergs HL, Becker GM, Davenport KM, Elsik CG, Hadfield TS, Koren S, Kuhn KL, Rhie A, Shira KA, Skibiel AL, Stegemiller MR, Thorne JW, Villamediana P, Cockett NE, Murdoch BM, Smith TPL
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