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Andrea Ganna

Researcher at University of Helsinki

Publications -  169
Citations -  19057

Andrea Ganna is an academic researcher from University of Helsinki. The author has contributed to research in topics: Medicine & Genome-wide association study. The author has an hindex of 42, co-authored 127 publications receiving 12520 citations. Previous affiliations of Andrea Ganna include Broad Institute & Science for Life Laboratory.

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The mutational constraint spectrum quantified from variation in 141,456 humans

TL;DR: A catalogue of predicted loss-of-function variants in 125,748 whole-exome and 15,708 whole-genome sequencing datasets from the Genome Aggregation Database (gnomAD) reveals the spectrum of mutational constraints that affect these human protein-coding genes.
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Discovery and refinement of loci associated with lipid levels

Cristen J. Willer, +319 more
- 06 Oct 2013 - 
TL;DR: It is found that loci associated with blood lipid levels are often associated with cardiovascular and metabolic traits, including coronary artery disease, type 2 diabetes, blood pressure, waist-hip ratio and body mass index.
Posted ContentDOI

Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes

Konrad J. Karczewski, +95 more
- 30 Jan 2019 - 
TL;DR: Using an improved human mutation rate model, human protein-coding genes are classified along a spectrum representing tolerance to inactivation, validate this classification using data from model organisms and engineered human cells, and show that it can be used to improve gene discovery power for both common and rare diseases.
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Genetic mechanisms of critical illness in Covid-19.

Erola Pairo-Castineira, +1449 more
- 04 Mar 2021 - 
TL;DR: The GenOMICC (Genetics Of Mortality In Critical Care) genome-wide association study in 2244 critically ill Covid-19 patients from 208 UK intensive care units is reported, finding evidence in support of a causal link from low expression of IFNAR2, and high expression of TYK2, to life-threatening disease.
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Common variants associated with plasma triglycerides and risk for coronary artery disease

Ron Do, +266 more
- 01 Nov 2013 - 
TL;DR: It is suggested that triglyceride-rich lipoproteins causally influence risk for CAD, and the strength of a polymorphism's effect on triglyceride levels is correlated with the magnitude of its effect on CAD risk.