Hilary K. Finucane
Broad Institute
Publications 89
#1Xia Jiang (KI: Karolinska Institutet)H-Index: 5
#2Hilary K. Finucane (Broad Institute)H-Index: 24
Last.Joe Dennis (University of Cambridge)H-Index: 37
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#1Darina Czamara (MPG: Max Planck Society)H-Index: 26
#2Gökcen Eraslan (TUM: Technische Universität München)H-Index: 2
Last.Rebecca M. Reynolds (BHF: British Heart Foundation)H-Index: 62
view all 229 authors...
Epigenetic processes, including DNA methylation (DNAm), are among the mechanisms allowing integration of genetic and environmental factors to shape cellular function. While many studies have investigated either environmental or genetic contributions to DNAm, few have assessed their integrated effects. Here we examine the relative contributions of prenatal environmental factors and genotype on DNA methylation in neonatal blood at variably methylated regions (VMRs) in 4 independent cohorts (overal...
#1Xia Jiang (KI: Karolinska Institutet)H-Index: 5
#2Hilary K. Finucane (Broad Institute)H-Index: 24
Last.Karoline Kuchenbaecker (UCL: University College London)H-Index: 3
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Quantifying the genetic correlation between cancers can provide important insights into the mechanisms driving cancer etiology. Using genome-wide association study summary statistics across six cancer types based on a total of 296,215 cases and 301,319 controls of European ancestry, here we estimate the pair-wise genetic correlations between breast, colorectal, head/neck, lung, ovary and prostate cancer, and between cancers and 38 other diseases. We observed statistically significant genetic cor...
#1Armin Schoech (Broad Institute)H-Index: 6
#2Daniel M. Jordan (ISMMS: Icahn School of Medicine at Mount Sinai)H-Index: 12
Last.Alkes L. Price (Broad Institute)H-Index: 61
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Understanding the role of rare variants is important in elucidating the genetic basis of human disease. Negative selection can cause rare variants to have larger per-allele effect sizes than common variants. Here, we develop a method to estimate the minor allele frequency (MAF) dependence of SNP effect sizes. We use a model in which per-allele effect sizes have variance proportional to [p(1 − p)]α, where p is the MAF and negative values of α imply larger effect sizes for rare variants. We estima...
#1Omer Weissbrod (Harvard University)H-Index: 9
#2Farhad Hormozdiari (Harvard University)H-Index: 21
Last.Carla Marquez-Luna (ISMMS: Icahn School of Medicine at Mount Sinai)
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Fine-mapping aims to identify causal variants impacting complex traits. Several recent methods improve fine-mapping accuracy by prioritizing variants in enriched functional annotations. However, these methods can only use information at genome-wide significant loci (and/or a small number of functional annotations), severely limiting the benefit of functional data. We propose PolyFun, a computationally scalable framework to improve fine-mapping accuracy using genome-wide functional data for a bro...
#1Christopher Hübel (KI: Karolinska Institutet)H-Index: 2
#2Héléna A. Gaspar (NIHR: National Institute for Health Research)H-Index: 14
Last.Tsegaselassie Workalemahu (NIH: National Institutes of Health)H-Index: 1
view all 14 authors...
#1Steven Gazal (Broad Institute)H-Index: 17
#2Carla Marquez-Luna (Broad Institute)H-Index: 3
Last.Alkes L. Price (Broad Institute)H-Index: 61
view all 4 authors...
#1Steven Gazal (Broad Institute)H-Index: 17
#2Hilary K. Finucane (MIT: Massachusetts Institute of Technology)H-Index: 24
Last.Alexander Gusev (Broad Institute)H-Index: 21
view all 11 authors...
In the version of the paper initially published, information on competing interests for author Benjamin M. Neale was missing. The ‘Competing interests' statement should have included the sentence ‘B.M.N. is on the Scientific Advisory Board of Deep Genomics'.
#1Samuel S. Kim (MIT: Massachusetts Institute of Technology)
#2Chengzhen Dai (MIT: Massachusetts Institute of Technology)
Last.Luke O’Connor (Harvard University)H-Index: 4
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Recent studies have highlighted the role of gene networks in disease biology. To formally assess this, we constructed a broad set of pathway, network, and pathway+network annotations and applied stratified LD score regression to 42 diseases and complex traits (average N = 323K) to identify enriched annotations. First, we analyzed 18,119 biological pathways. We identified 156 pathway-trait pairs whose disease enrichment was statistically significant (FDR
#1Jacob C. UlirschH-Index: 16
#2Caleb A. LareauH-Index: 10
Last.Joel N. HirschhornH-Index: 104
view all 14 authors...
Widespread linkage disequilibrium and incomplete annotation of cell-to-cell state variation represent substantial challenges to elucidating mechanisms of trait-associated genetic variation. Here we perform genetic fine-mapping for blood cell traits in the UK Biobank to identify putative causal variants. These variants are enriched in genes encoding proteins in trait-relevant biological pathways and in accessible chromatin of hematopoietic progenitors. For regulatory variants, we explore patterns...