Hilary K. Finucane
- Genetic Associations and Epidemiology
- Bioinformatics and Genomic Networks
- Genetic Mapping and Diversity in Plants and Animals
- Genetic and phenotypic traits in livestock
- Epigenetics and DNA Methylation
- Genomics and Chromatin Dynamics
- RNA Research and Splicing
- RNA modifications and cancer
- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Genetics and Neurodevelopmental Disorders
- Gene expression and cancer classification
- Hypothalamic control of reproductive hormones
- Cancer Genomics and Diagnostics
- Geometric and Algebraic Topology
- Liver Disease Diagnosis and Treatment
- Genomic variations and chromosomal abnormalities
- Genetic Syndromes and Imprinting
- Statistical Methods and Inference
- Nutrition, Genetics, and Disease
- RNA and protein synthesis mechanisms
- Single-cell and spatial transcriptomics
- SARS-CoV-2 and COVID-19 Research
- Adipose Tissue and Metabolism
- Birth, Development, and Health
Broad Institute
2015-2024
Massachusetts General Hospital
2020-2024
Harvard University
2010-2023
Massachusetts Institute of Technology
2012-2022
Genomics (United Kingdom)
2022
The University of Queensland
2019
IIT@MIT
2012-2016
British Heart Foundation
2015
Institute of Cancer Research
2015
Cancer Council Victoria
2015
A statistical method reveals relationships among variables in complex data sets.
Abstract Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency variants (0.1% ≤ minor allele frequency < 5%). These survived the founding bottleneck rather than being distributed over large ultrarare variants. Although this effect is well established Mendelian genetics, its value common disease genetics less explored 1,2 . FinnGen aims to study genome and national health register data...
Disorders of the brain can exhibit considerable epidemiological comorbidity and often share symptoms, provoking debate about their etiologic overlap. We quantified genetic sharing 25 disorders from genome-wide association studies 265,218 patients 784,643 control participants assessed relationship to 17 phenotypes 1,191,588 individuals. Psychiatric common variant risk, whereas neurological appear more distinct one another psychiatric disorders. also identified significant between a number...
LD score regression is a reliable and efficient method of using genome-wide association study (GWAS) summary-level results data to estimate the SNP heritability complex traits diseases, partition this into functional categories, genetic correlation between different phenotypes. Because relies on summary level data, computationally tractable even for very large sample sizes. However, publicly available GWAS are typically stored in databases have formats, making it difficult apply correlations...
ABSTRACT Population isolates such as Finland provide benefits in genetic studies because the allelic spectrum of damaging alleles any gene is often concentrated on a small number low-frequency variants (0.1% ≤ minor allele frequency < 5%), which survived founding bottleneck, opposed to being distributed over much larger ultra--rare variants. While this advantage well-- established Mendelian genetics, its value common disease genetics has been less explored. FinnGen aims study genome and...