Andrea Ganna
A5073500794- Genetic Associations and Epidemiology
- Genomics and Rare Diseases
- Metabolomics and Mass Spectrometry Studies
- Nutrition, Genetics, and Disease
- Genetic Mapping and Diversity in Plants and Animals
- SARS-CoV-2 and COVID-19 Research
- Epigenetics and DNA Methylation
- Genetic and phenotypic traits in livestock
- COVID-19 Clinical Research Studies
- Bioinformatics and Genomic Networks
- Birth, Development, and Health
- Genomic variations and chromosomal abnormalities
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Liver Disease Diagnosis and Treatment
- BRCA gene mutations in cancer
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Diet and metabolism studies
- Diabetes, Cardiovascular Risks, and Lipoproteins
- PARP inhibition in cancer therapy
- Machine Learning in Healthcare
- Lipoproteins and Cardiovascular Health
- Forensic and Genetic Research
- RNA Research and Splicing
- Health, Environment, Cognitive Aging
University of Helsinki
2018-2025
Institute for Molecular Medicine Finland
2016-2025
Broad Institute
2016-2025
Finland University
2018-2025
Massachusetts General Hospital
2015-2024
Karolinska Institutet
2013-2024
Harvard University
2014-2023
Massachusetts Institute of Technology
2023
HiLIFE – Elämäntieteiden Instituutti
2023
Hasso Plattner Institute
2023
Abstract Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences gene disruption: crucial for function an organism will be depleted such in natural populations, whereas non-essential tolerate their accumulation. However, predicted loss-of-function enriched annotation errors, and tend to found at extremely low frequencies, so analysis requires careful variant very large sample sizes 1 . Here we describe aggregation 125,748...
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...
Summary Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences gene disruption: critical for an organism’s function will be depleted such in natural populations, while non-essential tolerate their accumulation. However, predicted loss-of-function (pLoF) enriched annotation errors, and tend to found at extremely low frequencies, so analysis requires careful variant very large sample sizes 1 . Here, we describe aggregation...
A scavenger that protects the heart Coronary disease is a tale of two forms plasma cholesterol. In contrast to well-established effects “bad” cholesterol (LDL-C), role “good” (HDL-C) mysterious. Elevated HDL-C correlates with lower risk disease, yet drugs raise levels do not reduce risk. Zanoni et al. found some people exceptionally high carry rare sequence variant in gene encoding major receptor, receptor BI. This destroys receptor's ability take up HDL-C. Interestingly, this have higher...
Individuals with mental disorders often develop comorbidity over time. Past studies of have restricted analyses to a subset and few provided absolute risks later comorbidity.To undertake comprehensive study within disorders, by providing temporally ordered age- sex-specific pairwise estimates between the major groups an interactive website visualize all results guide future research clinical practice.This population-based cohort included individuals born in Denmark January 1, 1900, December...
Genetic predictions of height differ among human populations and these differences have been interpreted as evidence polygenic adaptation. These were first detected using SNPs genome-wide significantly associated with height, shown to grow stronger when large numbers sub-significant included, leading excitement about the prospect analyzing fractions genome detect adaptation for multiple traits. Previous studies based on SNP effect size measurements in GIANT Consortium meta-analysis. Here we...
The genetics of sexual orientation Twin studies and other analyses inheritance in humans has indicated that same-sex behavior a genetic component. Previous searches for the specific genes involved have been underpowered thus unable to detect signals. Ganna et al. perform genome-wide association study on 493,001 participants from United States, Kingdom, Sweden associated with (see Perspective by Mills). They find multiple loci implicated indicating that, like behavioral traits,...
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...
The Swedish Twin Registry (STR) today contains more than 194,000 twins and 75,000 pairs have zygosity determined by an intra-pair similarity algorithm, DNA, or being of opposite sex. Of these, approximately 20,000, 25,000, 30,000 are monozygotic, same-sex dizygotic, opposite-sex dizygotic pairs, respectively. Since its establishment in the late 1950s, STR has been important epidemiological resource for study genetic environmental influences on a multitude traits, behaviors, diseases....
Abstract Rare genetic variants are abundant in humans and expected to contribute individual disease risk 1,2,3,4 . While association studies have successfully identified common associated with susceptibility, these not practical for identifying rare 1,5 Efforts distinguish pathogenic from benign leveraged the code identify deleterious protein-coding alleles 1,6,7 , but no analogous exists non-coding variants. Therefore, ascertaining which phenotypic effects remains a major challenge. been...
Analyses of circulating metabolites in large prospective epidemiological studies could lead to improved prediction and better biological understanding coronary heart disease (CHD). We performed a mass spectrometry-based non-targeted metabolomics study for association with incident CHD events 1,028 individuals (131 events; 10 y. median follow-up) validation 1,670 (282 3.9 follow-up). Four were replicated independent main cardiovascular risk factors [lysophosphatidylcholine 18∶1 (hazard ratio...
Large-scale deep-coverage whole-genome sequencing (WGS) is now feasible and offers potential advantages for locus discovery. We perform WGS in 16,324 participants from four ancestries at mean depth >29X analyze genotypes with quantitative traits-plasma total cholesterol, low-density lipoprotein cholesterol (LDL-C), high-density triglycerides. Common variant association yields known loci except few variants previously poorly imputed. Rare coding Mendelian dyslipidemia genes but rare...
Abstract Understanding genetic architecture of plasma lipidome could provide better insights into lipid metabolism and its link to cardiovascular diseases (CVDs). Here, we perform genome-wide association analyses 141 species (n = 2,181 individuals), followed by phenome-wide scans with 25 CVD related phenotypes 511,700 individuals). We identify 35 lipid-species-associated loci (P <5 ×10 −8 ), 10 which associate risk including five new loci- COL5A1 , GLTPD2 SPTLC3 MBOAT7 GALNT16 (false...