Aarno Palotie
- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Migraine and Headache Studies
- Bioinformatics and Genomic Networks
- Traumatic Brain Injury and Neurovascular Disturbances
- Nutrition, Genetics, and Disease
- Neuroscience of respiration and sleep
- Genetic Mapping and Diversity in Plants and Animals
- Genetic and phenotypic traits in livestock
- Epigenetics and DNA Methylation
- Traumatic Brain Injury Research
- Birth, Development, and Health
- Lipoproteins and Cardiovascular Health
- Diabetes, Cardiovascular Risks, and Lipoproteins
- RNA Research and Splicing
- Lipid metabolism and disorders
- Trauma and Emergency Care Studies
- Health, Environment, Cognitive Aging
- RNA modifications and cancer
- Metabolism and Genetic Disorders
- Genetic factors in colorectal cancer
- Cancer, Lipids, and Metabolism
- BRCA gene mutations in cancer
University of Helsinki
2016-2025
Institute for Molecular Medicine Finland
2016-2025
Broad Institute
2016-2025
Massachusetts General Hospital
2016-2025
Finland University
2016-2025
Wellcome Sanger Institute
2013-2024
Helsinki University Hospital
2011-2024
Harvard University
2015-2024
Kuopio University Hospital
2014-2024
University of Eastern Finland
2014-2024
Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation DNA sequence changes. Here we describe aggregation analysis high-quality exome (protein-coding region) 60,706 individuals diverse ancestries generated as part Exome Aggregation Consortium (ExAC). This catalogue diversity contains an average one variant every eight bases exome, provides direct evidence presence widespread mutational recurrence. We have used this to calculate...
Exome sequencing studies in complex diseases are challenged by the allelic heterogeneity, large number and modest effect sizes of associated variants on disease risk presence numbers neutral variants, even phenotypically relevant genes. Isolated populations with recent bottlenecks offer advantages for studying rare as they have deleterious that present at higher frequencies well a substantial reduction variation. To explore potential Finnish founder population low-frequency (0.5–5%)...