Mattias Frånberg
A5000468215- Genetic Associations and Epidemiology
- Bioinformatics and Genomic Networks
- Genetic Mapping and Diversity in Plants and Animals
- Nutrition, Genetics, and Disease
- Genomics and Phylogenetic Studies
- Genetic and phenotypic traits in livestock
- Pancreatic function and diabetes
- RNA and protein synthesis mechanisms
- Hormonal Regulation and Hypertension
- Blood properties and coagulation
- Renin-Angiotensin System Studies
- Genetic diversity and population structure
- Birth, Development, and Health
- Cancer-related molecular mechanisms research
- Genetic Syndromes and Imprinting
- Cerebrovascular and genetic disorders
- Health, Environment, Cognitive Aging
- Statistical Methods in Clinical Trials
- Microfluidic and Capillary Electrophoresis Applications
- Advanced Proteomics Techniques and Applications
- Congenital heart defects research
- Peroxisome Proliferator-Activated Receptors
- Diabetes Treatment and Management
- Receptor Mechanisms and Signaling
- Metabolism, Diabetes, and Cancer
Karolinska Institutet
2015-2021
Stockholm University
2015-2017
Science for Life Laboratory
2015-2017
Karolinska University Hospital
2017
Numerical Method (China)
2015
Institute for Atherosclerosis Research
2015
To characterize type 2 diabetes (T2D)-associated variation across the allele frequency spectrum, we conducted a meta-analysis of genome-wide association data from 26,676 T2D case and 132,532 control subjects European ancestry after imputation using 1000 Genomes multiethnic reference panel. Promising signals were followed up in additional sets (of 14,545 or 7,397 38,994 71,604 subjects). We identified 13 novel T2D-associated loci (P < 5 × 10-8), including variants near GLP2R, GIP, HLA-DQA1...
Recent advances in highly multiplexed immunoassays have allowed systematic large-scale measurement of hundreds plasma proteins large cohort studies. In combination with genotyping, such studies offer the prospect to 1) identify mechanisms involved regulation protein expression plasma, and 2) determine whether are likely be causally implicated disease. We report here results genome-wide association (GWA) 83 considered relevant cardiovascular disease (CVD), measured 3,394 individuals multiple...
Abstract Fasting glucose and insulin are intermediate traits for type 2 diabetes. Here we explore the role of coding variation on these by analysis variants HumanExome BeadChip in 60,564 non-diabetic individuals 16,491 T2D cases 81,877 controls. We identify a novel association low-frequency nonsynonymous SNV GLP1R (A316T; rs10305492; MAF=1.4%) with lower FG ( β =−0.09±0.01 mmol l −1 , P =3.4 × 10 −12 ), risk (OR[95%CI]=0.86[0.76–0.96], =0.010), early secretion (β =−0.07±0.035 pmol =0.048),...
Elevated blood pressure is a major risk factor for cardiovascular disease and has substantial genetic contribution. Genetic variation influencing the potential to identify new pharmacological targets treatment of hypertension. To discover additional novel loci, we used 1000 Genomes Project–based imputation in 150 134 European ancestry individuals sought significant evidence independent replication further 228 245 individuals. We report 6 signals association or near HSPB7 , TNXB LRP12...
Cardiovascular risk factors have been implicated in the etiology of cerebral small vessel disease (CSVD); however, whether associations are causal remains unclear part due to susceptibility observational studies reverse causation and confounding. Here, we use mendelian randomization (MR) determine which cardiovascular likely be involved CSVD.We used data from large-scale genome-wide association European ancestry identify genetic proxies for blood pressure, lipids, body mass index (BMI), type...
An increasing number of genome-wide association (GWA) studies are now using the higher resolution 1000 Genomes Project reference panel (1000G) for imputation, with expectation that 1000G imputation will lead to discovery additional associated loci when compared HapMap imputation. In order assess improvement over in identifying loci, we results GWA circulating fibrinogen based on two panels. Using both and performed a meta-analysis 22 comprising same 91,953 individuals. We identified six...
Abstract High blood pressure is the foremost heritable global risk factor for cardiovascular disease. We report largest genetic association study of traits to date (systolic, diastolic, pulse pressure) in over one million people European ancestry. identify 535 novel loci that not only offer new biological insights into regulation but also reveal shared influencing lifestyle exposures. Our findings potential a precision medicine strategy future disease prevention.
Despite the success of genome-wide association studies in medical genetics, underlying genetics many complex diseases remains enigmatic. One plausible reason for this could be failure to account presence genetic interactions current analyses. Exhaustive investigations are typically infeasible because vast number possible impose hard statistical and computational challenges. There is, therefore, a need computationally efficient methods that build on models appropriately capturing interaction....
Insert size distributions from paired read protocols are used for inference in bioinformatic applications such as genome assembly and structural variation detection. However, many of the models that being subject to bias. This bias arises when we assume all insert sizes within a distribution equally likely be observed, fact, matters. These systematic errors exist popular software even assumptions made about data true. We have previously shown occurs scaffolders assembly. Here, generalize...
Reads from paired-end and mate-pair libraries are often utilized to find structural variation in genomes, one common approach is use their fragment length for detection. After aligning read pairs the reference, pair distances analyzed statistically significant deviations. However, previously proposed methods based on a simplified model of observed lengths that does not agree with data. We show how this limits statistical analysis identifying variants propose new by adapting we have...
In the past decade, AB tests have become standard method for making product decisions in tech companies. They offer a scientific approach to development, using statistical hypothesis testing control risks of incorrect decisions. Typically, multiple metrics are used serve different purposes, such as establishing evidence success, guarding against regressions, or verifying test validity. To mitigate with outcomes, it's crucial adapt design and analysis varied roles these outcomes. This paper...
Online controlled experiments, or A/B tests, are large-scale randomized trials in digital environments. This paper investigates the estimands of difference-in-means estimator these focusing on scenarios with repeated measurements users. We compare cumulative metrics that use all post-exposure data for each user to windowed measure over a fixed time window. analyze and highlight trade-offs between two types metrics. Our findings reveal while eliminate need pre-defined measurement windows,...
A complex disease has, by definition, multiple genetic causes. In theory, these causes could be identified individually, but their identification will likely benefit from informed use of anticipated interactions between addition, characterizing and understanding must considered key to revealing the etiology any disease. Large-scale collaborative efforts are now paving way for comprehensive studies interaction. As a consequence, there is need methods with computational efficiency sufficient...
ABSTRACT Elevated blood pressure is a major risk factor for cardiovascular disease and has substantial genetic contribution. Genetic variation influencing the potential to identify new pharmacological targets treatment of hypertension. To discover additional novel loci, we used 1000 Genomes Project-based imputation in 150,134 European ancestry individuals sought significant evidence independent replication further 228,245 individuals. We report 6 signals association or near HSPB7, TNXB,...
Abstract Reads from paired-end and mate-pair libraries are often utilized to find structural variation in genomes, one common approach is use their fragment length for detection. After aligning read-pairs the reference, read-pair distances analyzed statistically significant deviations. However, previously proposed methods based on a simplified model of observed lengths that does not agree with data. We show how this limits statistical analysis identifying variants propose new model, by...