Jeffrey P Spence
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Explore the profile of Jeffrey P Spence including associated specialties, affiliations and a list of published articles.
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35
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1303
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Recent Articles
1.
Spence J, Mostafavi H, Ota M, Milind N, Gjorgjieva T, Smith C, et al.
bioRxiv
. 2025 Feb;
PMID: 39935885
Standard genome-wide association studies (GWAS) and rare variant burden tests are essential tools for identifying trait-relevant genes. Although these methods are conceptually similar, we show by analyzing association studies of...
2.
Ota M, Spence J, Zeng T, Dann E, Marson A, Pritchard J
bioRxiv
. 2025 Feb;
PMID: 39896538
Genetic association studies provide a unique tool for identifying causal links from genes to human traits and diseases. However, it is challenging to determine the biological mechanisms underlying most associations,...
3.
Patel R, Weiss C, Zhu H, Mostafavi H, Simons Y, Spence J, et al.
Genetics
. 2024 Dec;
PMID: 39691067
Natural selection on complex traits is difficult to study in part due to the ascertainment inherent to genome-wide association studies (GWAS). The power to detect a trait-associated variant in GWAS...
4.
Mualim K, Spence J, Weiss C, Selmoni O, Lin M, Exposito-Alonso M
bioRxiv
. 2024 Nov;
PMID: 39484505
Genetic diversity within species is the basis for evolutionary adaptive capacity and has recently been included as a target for protection in the United Nations' Global Biodiversity Framework (GBF). However,...
5.
Schraiber J, Spence J, Edge M
bioRxiv
. 2024 Sep;
PMID: 39345369
As genetic sequencing costs have plummeted, datasets with sizes previously un-thinkable have begun to appear. Such datasets present new opportunities to learn about evolutionary history, particularly via rare alleles that...
6.
Czech L, Spence J, Exposito-Alonso M
Bioinformatics
. 2024 Aug;
40(8).
PMID: 39185959
Summary: Pool sequencing is an efficient method for capturing genome-wide allele frequencies from multiple individuals, with broad applications such as studying adaptation in Evolve-and-Resequence experiments, monitoring of genetic diversity in...
7.
Judd J, Spence J, Pritchard J, Kachuri L, Witte J
medRxiv
. 2024 Aug;
PMID: 39132496
Background: Genetic factors play an important role in prostate cancer (PCa) development with polygenic risk scores (PRS) predicting disease risk across genetic ancestries. However, there are few convincing modifiable factors...
8.
Smith C, Strausz S, Spence J, Ollila H, Pritchard J
medRxiv
. 2024 Aug;
PMID: 39132491
The human leukocyte antigen (HLA) region plays an important role in human health through involvement in immune cell recognition and maturation. While genetic variation in the HLA region is associated...
9.
Rothschild D, Susanto T, Sui X, Spence J, Rangan R, Genuth N, et al.
Cell Genom
. 2024 Aug;
4(9):100629.
PMID: 39111318
With hundreds of copies of rDNA, it is unknown whether they possess sequence variations that form different types of ribosomes. Here, we developed an algorithm for long-read variant calling, termed...
10.
Aguirre M, Spence J, Sella G, Pritchard J
bioRxiv
. 2024 Jul;
PMID: 39005431
Gene regulatory networks (GRNs) govern many core developmental and biological processes underlying human complex traits. Even with broad-scale efforts to characterize the effects of molecular perturbations and interpret gene coexpression,...