User profiles for Hilary K Finucane
![]() | Hilary K FinucaneBroad Institute of MIT and Harvard Verified email at broadinstitute.org Cited by 39845 |
Partitioning heritability by functional annotation using genome-wide association summary statistics
Recent work has demonstrated that some functional categories of the genome contribute
disproportionately to the heritability of complex diseases. Here we analyze a broad set of …
disproportionately to the heritability of complex diseases. Here we analyze a broad set of …
Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types
We introduce an approach to identify disease-relevant tissues and cell types by analyzing
gene expression data together with genome-wide association study (GWAS) summary …
gene expression data together with genome-wide association study (GWAS) summary …
An atlas of genetic correlations across human diseases and traits
Identifying genetic correlations between complex traits and diseases can provide useful
etiological insights and help prioritize likely causal relationships. The major challenges …
etiological insights and help prioritize likely causal relationships. The major challenges …
LD Score regression distinguishes confounding from polygenicity in genome-wide association studies
Both polygenicity (many small genetic effects) and confounding biases, such as cryptic
relatedness and population stratification, can yield an inflated distribution of test statistics in …
relatedness and population stratification, can yield an inflated distribution of test statistics in …
Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression
…, V Escott-Price, FHF Kiadeh, HK Finucane… - Nature …, 2018 - nature.com
Major depressive disorder (MDD) is a common illness accompanied by considerable
morbidity, mortality, costs, and heightened risk of suicide. We conducted a genome-wide …
morbidity, mortality, costs, and heightened risk of suicide. We conducted a genome-wide …
Detecting novel associations in large data sets
Identifying interesting relationships between pairs of variables in large data sets is increasingly
important. Here, we present a measure of dependence for two-variable relationships: the …
important. Here, we present a measure of dependence for two-variable relationships: the …
Efficient Bayesian mixed-model analysis increases association power in large cohorts
Linear mixed models are a powerful statistical tool for identifying genetic associations and
avoiding confounding. However, existing methods are computationally intractable in large …
avoiding confounding. However, existing methods are computationally intractable in large …
Analysis of shared heritability in common disorders of the brain
INTRODUCTION Brain disorders may exhibit shared symptoms and substantial epidemiological
comorbidity, inciting debate about their etiologic overlap. However, detailed study of …
comorbidity, inciting debate about their etiologic overlap. However, detailed study of …
[HTML][HTML] Modeling linkage disequilibrium increases accuracy of polygenic risk scores
Polygenic risk scores have shown great promise in predicting complex disease risk and will
become more accurate as training sample sizes increase. The standard approach for …
become more accurate as training sample sizes increase. The standard approach for …
Reference-based phasing using the Haplotype Reference Consortium panel
Haplotype phasing is a fundamental problem in medical and population genetics. Phasing
is generally performed via statistical phasing in a genotyped cohort, an approach that can …
is generally performed via statistical phasing in a genotyped cohort, an approach that can …