Selected publications and preprints
Masahiro Kanai, Roy Elzur, Wei Zhou, Global Biobank Meta-analysis Initiative, Mark J Daly, Hilary K Finucane (2022) Meta-analysis fine-mapping is often miscalibrated at single-variant resolution. MedRxiv doi: https://doi.org/10.1101/2022.03.16.22272457
Masahiro Kanai, Jacob C Ulirsch, Juha Karjalainen, Mitja Kurki, …, Hilary K Finucane et al (2021) Insights from complex trait fine-mapping across diverse populations. MedRxiv doi: https://doi.org/10.1101/2021.09.03.21262975
Elle M Weeks, Jacob C Ulirsch, Nathan Y Cheng, Brian L Trippe, …, Hilary K Finucane et al (2020). Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases. MedRxiv doi: https://doi.org/10.1101/2020.09.08.
Qingbo,S. Wang, David, Jacob Ulirsch, Masahiro Kanai, Shuvom Sadhuka, Ran Cui, Carlos Albors, Nathan Cheng, Yukinori Okada, The Biobank Japan Project, Francois Aguet, Kristin G. Ardlie, Daniel G. MacArthur, Hilary K. Finucane (2020). Leveraging supervised learning for functionally-informed fine-mapping of cis-eQTLs identifies an additional 20,913 putative causal. eQTLs bioRxiv doi: https://doi.org/10.1101/2020.10.20.347294.
Hilary Finucane, Yakir Reshef, Verneri Anttila, Kamil Slowkowski, Alexander Gusev, et al.
Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types
Research highlight in Nature Reviews Genetics, 4/23/18
Nature Genetics, 2018.
Hilary Finucane*, Brendan Bulik-Sullivan*, Alexander Gusev, Gosia Trynka, Yakir Reshef, et al. (* = co-first)
Partitioning heritability by functional category using GWAS summary statistics
Nature Genetics, 2015.
Brendan Bulik-Sullivan*, Hilary Finucane*, Verneri Anttila, Alexander Gusev, Felix Day, et al. (* = co-first)
An atlas of genetic correlations across human diseases and traits
Nature Genetics, 2015.
Other publications and preprints
Omer Weissbrod, Masahiro Kanai, Huwenbo Shi, …, Hilary K Finucane, et al.
Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores.
Nature Genetics, 2022
Zhi Yu, Seyedeh M Zekavat, Sara Haidermota, …, Hilary K Finucane, et al.
Genome-wide pleiotropy analysis of coronary artery disease and pneumonia identifies shared immune pathways.
Science Advances, 2022 doi: 10.1126/sciadv.abl4602
Ryan L Collins, Joseph T Glessner, Eleonora Porcu, …, Hilary Finucane, et al.
A cross-disorder dosage sensitivity map of the human genome.
Cell, 2022
Elizabeth G. Atkinson, Adam X. Maihofer, Masahiro Kanai, Alicia R. Martin, …, Hilary K Finucane, et al.
Tractor uses local ancestry to enable the inclusion of admixed individuals in GWAS and to boost power.
Nature Genetics, 2021.
Joseph Nasser, Drew T Bergman, Charles P Fulco, …, Hilary K Finucane, et al.
Genome-wide enhancer maps link risk variants to disease genes.
Nature Genetics, 2021.
Yang Luo, Xinyi Li, Xin Wang, …, Hilary K Finucane, et al.
Estimating heritability and its enrichment in tissue-specific gene sets in admixed populations.
Human Molecular Genetics, 2021.
Steven K Reilly, Sager J Gosai, Alan Gutierrez, …, Hilary K Finucane, et al.
Direct characterization of cis-regulatory elements and functional dissection of complex genetic associations using HCR-FlowFISH.
National Genetics, 2021.
Dustin Griesemer, James R Xue, Steven K Reilly, Jacob C Ulirsch,…, Hilary K Finucane, et al.
Genome-wide functional screen of 3'UTR variants uncovers causal variants for human disease and evolution.
Cell, 2021.
Mireille Kamariza, Lorin Crawford, David Jones, Hilary Finucane
Misuse of the term 'trans-ethnic' in genomics research.
National Genetics, 2021.
Bryce van de Geijn, Hilary Finucane, Steven Gazal, Farhad Hormozdiari, et al.
Annotations capturing cell type-specific TF binding explain a large fraction of disease heritability.
Human Molecular Genetics. 2020 May 8 doi: 10.1093/hmg/ddz226.
John P Ray, Carl G de Boer, Charles P Fulco, Caleb A Lareau, …, Hilary K Finucane, et al.
Prioritizing disease and trait causal variants at the TNFAIP3 locus using functional and genomic features.
Nature Communications, 2020.
Omer Weissbrod, Farhad Hormozdiari, Christian Benner, Ran Cui, Jacob Ulirsch,…, Hilary K Finucane, et al.
Functionally informed fine-mapping and polygenic localization of complex trait heritability.
Nature Genetics, 2020.
Steven Gazal, Hilary K Finucane, Nicholas A Furlotte, Po-Ru Loh , et al.
Linkage disequilibrium-dependent architecture of human complex traits shows action of negative selection.
Nature Genetics, 2020.
Steven Gazal, Carla Marquez-Luna, Hilary Finucane, Alkes Price.
Reconciling S-LDSC and LDAK functional enrichment estimates.
Nature Genetics, 2019.
Samuel Kim, Chengzhen Dai, Farhad Hormozdiari, Bryce van de Geijn , …, Hilary Finucane, et al.
Genes with High Network Connectivity Are Enriched for Disease Heritability.
American Journal of Human Genetics, 2019.
Jacob Ulirsch, Caleb Lareau, Erik Bao, Leif Ludwig, …, Hilary Finucane, et al.
Interrogation of human hematopoiesis at single-cell and single-variant resolution
Nature Genetics, 2019.
Armin Schoech, Daniel Jordan, Po-Ru Loh, Steven Gazal, …, Hilary Finucane, et al.
Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection
Nature Communications, 2019.
Xia Jiang, Hilary Finucane, Fredrick Schumacher, Stephanie Schmit, Jonathan Tyrer, et al.
Shared heritability and functional enrichment across six solid cancers
Nature Communications, 2019.
Christopher Hübel, Héléna Gaspar, Jonathan Coleman, Hilary Finucane, Kirstin Purves, et al.
Genomics of body fat percentage may contribute to sex bias in anorexia nervosa
American Journal of Medical Genetics, 2018.
Kevin Galinsky, Yakir Reshef, Hilary Finucane, Po-Ru Loh, Noah Zaitlen, et al.
Estimating cross-population genetic correlations of causal effect sizes
Genetic Epidemiology, 2018.
Steven Gazal, Po-Ru Loh, Hilary Finucane, Andrea Ganna , Armin Schoech, Shamil Sunyaev, Alkes Price.
Functional architecture of low-frequency variants highlights strength of negative selection across coding and non-coding annotations
Nature Genetics, 2018.
Yakir Reshef, Hilary Finucane, David Kelley, Alexander Gusev, Dylan Kotliar, et al.
Detecting genome-wide directional effects of transcription factor binding on polygenic disease risk
Nature Genetics, 2018.
PO Loh, Giulio Genovese, Robert Handsaker, Hilary Finucane, Yakir Reshef, et al.
Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations
Nature, 2018.
Farhad Hormozdiari, Steven Gazal, Bryce van de Geijn, Hilary Finucane, Chelsea Ju, et al.
Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits
Nature Genetics, 2018.
Naomi R Wray, Stephan Ripke, Manuel Mattheisen, Maciej Trzaskowski, ..., Hilary Finucane, et al.
Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression
Nature Genetics, 2018.
Alexander Gusev, Nicholas Mancuso, Hyejung Won, Maria Kousi, Hilary Finucane, et al.
Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights
Nature Genetics, 2018.
Luke O'Connor, Alexander Gusev, Xuanyao Liu, Po-Ru Loh, Hilary Finucane, Alkes Price.
Estimating the proportion of disease heritability mediated by gene expression levels
bioRxiv, 2017.
Steven Gazal, Hilary Finucane, Nicholas Furlotte, Po-Ru Loh, Pier Palamara, et al.
Linkage disequilibrium dependent architecture of human complex traits reveals action of negative selection
Author Correction in Nature Genetics, 7/4/19.
Nature Genetics, 2017.
Kyriaki Michailidou, Sara Lindström, Joe Dennis, Jonathan Beesley, ..., Hilary Finucane, et al.
Association analysis identifies 65 new breast cancer risk loci
Nature, 2017.
Roger Milne, Karoline Kuchenbaecker, Kyriaki Michailidou, Jonathan Beesley, ..., Hilary Finucane, et al.
Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer
Nature Genetics, 2017.
Sara Lindström, Hilary Finucane, Brendan Bulik-Sullivan, Fredrick Schumacher, Christopher Amos, et al.
Quantifying the Genetic Correlation between Multiple Cancer Types
Cancer Epidemiology, Biomarkers & Prevention, 2017.
Felix Day, Deborah Thompson, Hannes Helgason, Daniel Chasman, Hilary Finucane, et al.
Genomic analyses identify hundreds of variants associated with age at menarche and support a role for puberty timing in cancer risk
Nature Genetics, 2017.
Xuanyao Liu, Hilary Finucane, Alexander Gusev, Gaurav Bhatia, Steven Gazal, et al.
Functional Architectures of Local and Distal Regulation of Gene Expression in Multiple Human Tissues
American Journal of Human Genetics, 2017.
Jie Zheng, A. Mesut Erzurumluoglu, Benjamin Elsworth, ..., Hilary Finucane, et al.
LD Hub: a centralized database and web interface to perform LD score regression that maximizes the potential of summary level GWAS data for SNP heritability and genetic correlation analysis
Bioinformatics, 2017.
Po-Ru Loh, Petr Danecek, Pier Francesco Palamara, Christian Fuchsberger, Yakir Reshef, Hilary Finucane, et al.
Reference-based phasing using the Haplotype Reference Consortium panel
Nature Genetics, 2016.
Jennie Pouget, Vanessa Goncalves, Schizophrenia Working Group of the Pyschiatric Genomics Consortium, Sarah Spain, Hilary Finucane, et al.
Genome-Wide Association Studies Suggest Limited Immune Gene Enrichment in Schizophrenia Compared to 5 Autoimmune Diseases
Schizophrenia Bulletin, 2016.
Gaurav Bhatia, Nicholas Furlotte, Po-Ru Loh, Xuanyao Liu, Hilary Finucane, et al.
Correcting subtle stratification in summary association statistics.
bioRxiv, 2016.
Verneri Anttila, Brendan Bulik-Sullivan, Hilary Finucane, Jose Bras, Laramie Duncan, et al.
Analysis of shared heritability in common disorders of the brain.
Science 2018 Jun 22;360(6395):eaap8757. doi: 10.1126/science.aap8757.
Alexander Gusev, Nick Mancuso, Hilary Finucane, Yakir Reshef, Lingyun Song, et al.
Transcriptome-wide association study of schizophrenia and chromatin activity yields mechanistic disease insights.
bioRxiv, 2016.
Gaurav Bhatia, Alexander Gusev, Po-Ru Loh, Hilary Finucane, Bjarni J Vilhjalmsson, et al.
Subtle stratification confounds estimates of heritability from rare variants.
bioRxiv, 2016.
Pier Francesco Palamara, Laurent Francioli, Giulio Genovese, Peter Wilton, Alexander Gusev, Hilary Finucane, et al.
Leveraging distant relatedness to quantify human mutation and gene conversion rates
American Journal of Human Genetics, 2015.
Felix Day, Brendan Bulik-Sullivan, D Hinds, Hilary Finucane, J Murabito et al.
Shared genetic aetiology of puberty timing between sexes and with health-related outcomes
Nature Communications, 2015.
Po-Ru Loh, Gaurav Bhatia, Alexander Gusev, Hilary Finucane, Brendan Bulik-Sullivan, et al.
Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis
Nature Genetics, 2015.
Bjarni Vilhjálmsson, Jian Yang, Hilary Finucane, Alexander Gusev, Sara Lindström, et al.
Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores
American Journal of Human Genetics, 2015.
F Day, KS Ruth, DJ Thompson, KL Lunetta, N Pervjakova, ..., Hilary Finucane, et al.
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair
Nature Genetics, 2015.
Kristian G Andersen, B Jesse Shapiro, Christian B Matranga, Rachel Sealfon, ..., Hilary Finucane, et al.
Clinical Sequencing Uncovers Origins and Evolution of Lassa Virus.
Cell, 2015.
Po-Ru Loh, George Tucker, Brendan Bulik-Sullivan, Bjarni Vilhjálmsson, Hilary Finucane, et al.
Efficient Bayesian mixed model analysis increases association power in large cohorts
Nature Genetics, 2015.
Brendan Bulik-Sullivan, Po-Ru Loh, Hilary Finucane, Stephan Ripke, Jian Yang, et al.
LD Score Regression Distinguishes Confounding from Polygenicity in Genome-Wide Association Studies
Nature Genetics, 2015.
Alexander Gusev, S. Hong Lee, Gosia Trynka, Hilary Finucane, Bjarni Vilhjálmsson, et al.
Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases
American Journal of Human Genetics 2014.
Bonnie Kirkpatrick, Yakir Reshef, Hilary Finucane, Haitao Jiang, Binhai Zhu, and Richard Karp
Comparing pedigree graphs
Journal of Computational Biology, September 2012.
David Reshef*, Yakir Reshef*, Hilary Finucane, Sharon Grossman, Gilean McVean, et al. (* = co-first)
Detecting novel associations in large datasets
Science, December 2011
Mathematics and theoretical computer science
(Note: all author lists are alphabetical by last name in these fields.)
[[Itai Benjamini, Hilary Finucane, and Romain Tessera]]
On the scaling limit of finite vertex transitive graphs with large diameter
Combinatorica, 2017.
[[Hilary Finucane, Omer Tamuz, and Yariv Yaari]]
Scenery reconstruction on finite abelian groups
Stochastic Processes and their Applications, 2014.
[[Hilary Finucane, Ron Peled, and Yariv Yaari]]
A recursive construction of t-wise uniform permutations
Random Structures and Algorithms, 2013.
[[Itai Benjamini, Hilary Finucane, and Romain Tessera]]
Algebraically recurrent random walks on groups
Electronic Communications in Probability 18, 2013.
Hilary Finucane
Finite Voronoi decompositions of infinite vertex transitive graphs
Journal of Topology and Analysis 5(02), 2013.
[[Hilary Finucane and Michael Mitzenmacher]]
An improved analysis of the lossy difference aggregator
SIGCOMM Computer Communication Review, April 2010.
[[Flavio Chierichetti, Hilary Finucane, Zhenming Liu, and Michael Mitzenmacher]]
Designing floating codes for expected performance
IEEE Transactions on Information Theory, March 2010.