Motivation: The correct classification of missense variants as benign or pathogenic remains challenging. Pathogenic variants are expected to have higher deleterious prediction scores than benign variants in the same gene. However, most of the existing variant annotation tools do not reference the score range of benign population variants on gene level. Results: We present a web-application, Variant Score Ranker, which enables users to rapidly annotate variants and perform gene-specific variant score ranking on the population level. We also provide an intuitive example of how gene- and population-calibrated variant ranking scores can improve epilepsy variant prioritization
peer reviewedGermline and brain-specific somatic variants have been reported as an underlying cause ...
A challenge in medical genomics is to identify variants and genes associated with severe genetic dis...
Abstract Background In the search for novel causal mutations, public and/or private variant database...
The correct classification of missense variants as benign or pathogenic remains challenging. Pathoge...
Background: The increasing volume and complexity of high-throughput genomic data make analysis and p...
Gene panel and exome sequencing have revealed a high rate of molecular diagnoses among diseases wher...
Background: Whole exome sequencing studies identify hundreds to thousands of rare protein coding var...
Background: Identification of the genetic alterations responsible for human disease is a central cha...
BackgroundWhen applying genomic medicine to a rare disease patient, the primary goal is to identify ...
The diagnosis of genetic illnesses has undergone a revolution with advancements in sequencing techno...
<p>Rank percentile distributions of pathogenicity scores for rare stop-gain variants (MAF<1%) are sh...
Gene prioritization is the process of determining which variants and genes identified in genetic ana...
peer reviewedMissense variant interpretation is challenging. Essential regions for protein function ...
<div><p>An important message taken from human genome sequencing projects is that the human populatio...
There is a growing need to develop variant prediction tools capable of assessing a wide spectrum of ...
peer reviewedGermline and brain-specific somatic variants have been reported as an underlying cause ...
A challenge in medical genomics is to identify variants and genes associated with severe genetic dis...
Abstract Background In the search for novel causal mutations, public and/or private variant database...
The correct classification of missense variants as benign or pathogenic remains challenging. Pathoge...
Background: The increasing volume and complexity of high-throughput genomic data make analysis and p...
Gene panel and exome sequencing have revealed a high rate of molecular diagnoses among diseases wher...
Background: Whole exome sequencing studies identify hundreds to thousands of rare protein coding var...
Background: Identification of the genetic alterations responsible for human disease is a central cha...
BackgroundWhen applying genomic medicine to a rare disease patient, the primary goal is to identify ...
The diagnosis of genetic illnesses has undergone a revolution with advancements in sequencing techno...
<p>Rank percentile distributions of pathogenicity scores for rare stop-gain variants (MAF<1%) are sh...
Gene prioritization is the process of determining which variants and genes identified in genetic ana...
peer reviewedMissense variant interpretation is challenging. Essential regions for protein function ...
<div><p>An important message taken from human genome sequencing projects is that the human populatio...
There is a growing need to develop variant prediction tools capable of assessing a wide spectrum of ...
peer reviewedGermline and brain-specific somatic variants have been reported as an underlying cause ...
A challenge in medical genomics is to identify variants and genes associated with severe genetic dis...
Abstract Background In the search for novel causal mutations, public and/or private variant database...