Raphael O. Betschart
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View article: A benchmark study of compression software for human short-read sequence data
A benchmark study of compression software for human short-read sequence data Open
View article: Prevalence and clinical relevance of familial hypercholesterolemia-causing mutations in Germany
Prevalence and clinical relevance of familial hypercholesterolemia-causing mutations in Germany Open
Background Familial hypercholesterolemia (FH) is a monogenic disease characterized by pathogenic mutations in genes involved in low-density lipoprotein cholesterol (LDL-C) metabolism. Optimal strategies for identifying FH in the general po…
View article: Biostatistical Aspects of Whole Genome Sequencing Studies: Preprocessing and Quality Control
Biostatistical Aspects of Whole Genome Sequencing Studies: Preprocessing and Quality Control Open
Rapid advances in high‐throughput DNA sequencing technologies have enabled large‐scale whole genome sequencing (WGS) studies. Before performing association analysis between phenotypes and genotypes, preprocessing and quality control (QC) o…
View article: Comprehensive Analysis of the Genetic Variation in the LPA Gene from Short-Read Sequencing
Comprehensive Analysis of the Genetic Variation in the LPA Gene from Short-Read Sequencing Open
Lipoprotein (a) (Lp(a)) is a risk factor for cardiovascular diseases and mainly regulated by the complex LPA gene. We investigated the types of variation in the LPA gene and their predictive performance on Lp(a) concentration. We determine…
View article: Comprehensive analysis of the genetic variation in the<i>LPA</i>gene from short-read sequencing
Comprehensive analysis of the genetic variation in the<i>LPA</i>gene from short-read sequencing Open
Lipoprotein (a) [LP(a)] is a risk factor for cardiovascular diseases and mainly regulated by the complex LPA gene. We investigated the types of variation in the LPA gene and their predictive performance on LP(a) concentration. We determine…
View article: Cost-effectiveness of a telemonitoring programme in patients with cardiovascular diseases compared with standard of care
Cost-effectiveness of a telemonitoring programme in patients with cardiovascular diseases compared with standard of care Open
Objectives The main aim of this work was to analyse the cost-effectiveness of an integrated care concept (NICC) that combines telemonitoring with the support of a care centre in addition to guideline therapy for patients. Secondary aims we…
View article: Cost-effectiveness of a telemonitoring program in patients with cardiovascular diseases compared to standard of care
Cost-effectiveness of a telemonitoring program in patients with cardiovascular diseases compared to standard of care Open
Objectives The main aim of this work was to analyze the cost-effectiveness of an integrated care concept (NICC) that combines telemonitoring with the support of a care center in addition to guideline therapy for patients. Secondary aims we…
View article: Comparison of calling pipelines for whole genome sequencing: an empirical study demonstrating the importance of mapping and alignment
Comparison of calling pipelines for whole genome sequencing: an empirical study demonstrating the importance of mapping and alignment Open
View article: Comparison of calling pipelines for whole genome sequencing: an empirical study demonstrating the importance of mapping and alignment
Comparison of calling pipelines for whole genome sequencing: an empirical study demonstrating the importance of mapping and alignment Open
Rapid advances in high-throughput DNA sequencing technologies have enabled the conduct of whole genome sequencing (WGS) studies, and several bioinformatics pipelines have become available. The aim of this study was the comparison of 6 WGS …