3.1k citations · 3.6k across the 8 of their papers we have counts for
8 papers
Learning Causal Representations of Single Cells via Sparse Mechanism Shift Modeling
Romain Lopez, Nataša Tagasovska, Stephen Ra +3
Latent variable models such as the Variational Auto-Encoder (VAE) have become a go-to tool for analyzing biological data, especially in the field of single-cell genomics. One remai…
On the number of genealogical ancestors tracing to the source groups of an admixed population
Jazlyn A. Mooney, Lily Agranat-Tamir, Jonathan K. Pritchard +1
In genetically admixed populations, admixed individuals possess ancestry from multiple source groups. Studies of human genetic admixture frequently estimate ancestry components cor…
Large-Scale Differentiable Causal Discovery of Factor Graphs
Romain Lopez, Jan-Christian Hütter, Jonathan K. Pritchard +1
A common theme in causal inference is learning causal relationships between observed variables, also known as causal discovery. This is usually a daunting task, given the large num…
The Functional Consequences of Variation in Transcription Factor Binding
Darren A. Cusanovich, Bryan Pavlovic, Jonathan K. Pritchard +1
One goal of human genetics is to understand how the information for precise and dynamic gene expression programs is encoded in the genome. The interactions of transcription factors…
The deleterious mutation load is insensitive to recent population history
Yuval B. Simons, Michael C. Turchin, Jonathan K. Pritchard +1
Human populations have undergone dramatic changes in population size in the past 100,000 years, including a severe bottleneck of non-African populations and recent explosive popula…
A statistical framework for joint eQTL analysis in multiple tissues
Timothée Flutre, Xiaoquan Wen, Jonathan Pritchard +1
Mapping expression Quantitative Trait Loci (eQTLs) represents a powerful and widely-adopted approach to identifying putative regulatory variants and linking them to specific genes.…
The genetic architecture of adaptations to high altitude in Ethiopia
Gorka Alkorta-Aranburu, Cynthia M. Beall, David B. Witonsky +3
Although hypoxia is a major stress on physiological processes, several human populations have survived for millennia at high altitudes, suggesting that they have adapted to hypoxic…
Inference of population splits and mixtures from genome-wide allele frequency data
Joseph K. Pickrell, Jonathan K. Pritchard
Many aspects of the historical relationships between populations in a species are reflected in genetic data. Inferring these relationships from genetic data, however, remains a cha…