Super excited to share my latest preprint with @lohmueller and Sriram Sankararaman! Here we leverage the unique signature that recessive deleterious variants can lead to an increase in archaic ancestry to tackle a classic question - the dominance distribution on the human genome.

RT @biorxiv_evobio: A global map for introgressed structural variation and selection in humans #biorxiv_evobio.

RT @vagheesh: Incredible! Dragon man is a Denisovan. Major congratulations Qiaomei Fu.

RT @vagheesh: Based on the new DNA evidence now from Harbin, as well as Xiahe, it's now almost certain that the samples in the yellow box a….

Very glad this paper is finally out!.

RT @TessaFerrari: Final version of our paper on scaling in SLiM now published in @GenomeBiolEvol !. We’ve added some new results comparing….

RT @yanivbrandvain: **10th Midwest PopGen Conference** .Location: UMN Twin Cities, .Date: Aug 21–22! .Events: Talks, Posters, dinner + MN….

n/n This was the last project I started during my postdoc, and finally completed with tremendous help from my postdoc mentors Kirk and Sriram, two UMich biostats MS students (Jiongxuan Yang and Lingxuan Zhu), and many colleagues and friends in MI and CA. Can't thank them enough!.

6/n Overall, we show that recessive deleterious mutations not only exist on the human genome, but also are not uniformly distributed and are mostly found in regions regulating metabolism and immune functions (signal regions include HLA).

We further investigated the biology of such regions and show they are 1) depleted of haploinsufficient genes, 2) depleted of long ROHs, 3) enriched with UKBB variants with evidence of fitting non-additive model, 4) experienced weaker BGS, and 5) more tolerant to LOF mutations.

4/n we then applied the model to 7 non-African pops in 1KG, and detected that approx. 3-9% of the human genome is enriched with recessive deleterious mutation! This is important because previously, dominance is very understudied in humans due to many constraints with methodology.

3/n the ML model shows decent power and robustness at finding genomic regions enriched with recessive (or close to fully recessive, such as h<0.1) deleterious mutations at 1MB-scale resolution, with exceptional accuracy in exon-dense regions.

2/n we developed an ML approach using archaic ancestry as one of the key features and trained ML classifiers with simulations using fully recessive vs fully additive deleterious mutations. After a rigorous performance comparison and feature selection, we picked a winner ML model.

1/n This is a spin-off of some earlier papers showing that recessive deleterious muts can confound adaptive introgression due to heterosis. And we ask a reverse-engineering Q: given the archaic ancestry map, can we infer if any genomic region is enriched with recessive mutations?.

RT @jyang1981: This study shows that lowland individuals living at high altitude exhibit accelerated DNA methylation age. .

Amazing achievement especially given this rough year! Congratulations Tessa!!!!.

RT @pastramimachine: Really excited to share our new preprint led by @ramencult on a novel signature of selection in georeferenced genotype….

RT @biorxiv_genetic: The distribution of highly deleterious variants across human ancestry groups #biorxiv_genetic.

RT @hjpimentel: I'm breaking my Twitter boycott for the greater good. We have a school-wide search for an open rank faculty as mentor prof….

RT @MKuhlwilm: New paper from the lab just out before New Years! Revisiting adaptive introgression at the HLA genes in Lithuanian genomes w….