Steven Monger
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View article: Systematic evaluation of <i>de novo</i> mutation calling tools using whole genome sequencing data
Systematic evaluation of <i>de novo</i> mutation calling tools using whole genome sequencing data Open
De novo mutations (DNMs) are genetic alterations that occur for the first time in an offspring. DNMs have been found to be a significant cause of severe developmental disorders. With the widespread use of next-generation sequencing (NGS) t…
View article: Benchmarking of variant pathogenicity prediction methods using a population genetics approach
Benchmarking of variant pathogenicity prediction methods using a population genetics approach Open
Motivation Variant pathogenicity predictors are essential for identifying new associations between genetic variants and rare diseases. However, despite the availability of numerous predictors, there is no clear consensus on which methods p…
View article: Benchmarking of variant pathogenicity prediction methods using a population genetics approach
Benchmarking of variant pathogenicity prediction methods using a population genetics approach Open
Motivation Variant pathogenicity predictors are essential for identifying new associations between genetic variants and rare diseases. However, despite the availability of numerous predictors, there is no clear consensus on which methods p…
View article: Systematic evaluation of <i>de novo</i> mutation calling tools using whole genome sequencing data
Systematic evaluation of <i>de novo</i> mutation calling tools using whole genome sequencing data Open
De novo mutations (DNMs) are genetic alterations that occur for the first time in an offspring. DNMs have been found to be a significant cause of severe developmental disorders. With the widespread use of next-generation sequencing (NGS) t…
View article: Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing
Exploring the Genetic Architecture of Spontaneous Coronary Artery Dissection Using Whole-Genome Sequencing Open
Background: Spontaneous coronary artery dissection (SCAD) is a cause of acute coronary syndrome that predominantly affects women. Its pathophysiology remains unclear but connective tissue disorders (CTD) and other vasculopathies have been …
View article: Transposon clusters as substrates for aberrant splice-site activation
Transposon clusters as substrates for aberrant splice-site activation Open
Transposed elements (TEs) have dramatically shaped evolution of the exon-intron structure and significantly contributed to morbidity, but how recent TE invasions into older TEs cooperate in generating new coding sequences is poorly underst…
View article: Transposon clusters as substrates for aberrant splice-site activation
Transposon clusters as substrates for aberrant splice-site activation Open
Transposed elements (TEs) have dramatically shaped evolution of the exon-intron structure and significantly contributed to morbidity, but how recent TE invasions into older TEs cooperate in generating new coding sequences is poorly underst…
View article: Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variants Open
Congenital heart disease (CHD) is the most common birth defect and brings with it significant mortality and morbidity. The application of exome and genome sequencing has greatly improved the rate of genetic diagnosis for CHD but the cause …