New preprint on a surprising question - with a pangenome reference, *what is a genetic variant?*
biorxiv.org/content/10.110…
With Pouria Salehi Nowbandani, Shenghan Zhang, Haoyang Hu, and Heng Li @lh3lh3
How often is autism caused by de novo changes to the genome? What is the spectrum of penetrance across autism-associated genes? What can we expect from future autism gene discovery? I'm pleased to share a new preprint where we develop new statistical methods to answer these Qs.
Very excited to share a powerful new method, graphREML, for common-variant heritability partitioning and enrichment from GWAS sumstats, now published in @NatureGenet
Led by 1st author Hui Li, co-supervised with @XihongLin
So excited to share our latest preprint, introducing a powerful genealogical compression algorithm for biobank-scale genetic data
With Amber Shen, Xinran Wang, and Nick Mancuso @nmancuso_biorxiv.org/content/10.648…