iiinova — where your digital self keeps evolving

Hufsah Ashraf

@hufsahashraf.bsky.social

Reposted by Hufsah Ashraf

Nature Reviews Genetics @natrevgenet.nature.com · 24/07/2026

Building and applying pangenome references to capture genetic diversity go.nature.com/4vMAlwE #Review by @hufsahashraf.bsky.social, @danydoerr.bsky.social, Jana Ebler & @tobiasmar.bsky.social @hhu.de Free to read here: rdcu.be/fumeF

rdcu.be

Building and applying pangenome references to capture genetic diversity

Nature Reviews Genetics - Pangenomes are genome references that integrate sequences from multiple individuals into graph-based or multi-haplotype representations, capturing genetic variation beyond...

0124

Reposted by Hufsah Ashraf

Tobias Marschall @tobiasmar.bsky.social · 23/07/2025

Two papers in today's issue of @nature.com ‬: 1) we assemble 65 genomes to near completion, including centromeres and the MHC. tinyurl.com/3huhax6w. 2) we sequence 1,019 genomes from the 1kGP with long reads, revealing SVs down to low allele frequencies tinyurl.com/wbx3we9x.

tinyurl.com

Complex genetic variation in nearly complete human genomes - Nature

Using sequencing and haplotype-resolved assembly of 65 diverse human genomes, complex regions including the major histocompatibility complex and centromeres are analysed.

15424

Reposted by Hufsah Ashraf

Samarendra Pani @samarendra-pani.bsky.social · 24/07/2025

[1/8] *New Open-Access Long Read Resource*. We sequenced 1,019 genomes from the 1000 Genomes Project sample cohort using @nanoporetech.com long-read sequencing (LRS) to median 17x coverage. Publication at go.nature.com/4ffPb8f. @hhu.de @crg.eu @embl.org @impvienna.bsky.social

14221