Computational tools are widely used for ranking and prioritizing variants for characterizing their disease relevance. Since numerous tools have been developed, they have to be properly assessed before being applied. Critical Assessment of Genome Interpretation (CAGI) experiments have significantly contributed toward the assessment of prediction methods for various tasks. Within and outside the CAGI, we have addressed several questions that facilitate development and assessment of variation interpretation tools. These areas include collection and distribution of benchmark datasets, their use for systematic large-scale method assessment, and the development of guidelines for reporting methods and their performance. For us, CAGI has provided a...
Computational prediction methods are widely used for analysis of human genome sequence variants and ...
Whole-genome sequencing (WGS) holds great potential as a diagnostic test. However, the majority of p...
Testing for variation in BRCA1 and BRCA2 (commonly referred to as BRCA1/2), has emerged as a standar...
In silico approaches are routinely adopted to predict the effects of genetic variants and their rela...
Correct phenotypic interpretation of variants of unknown significance for cancer-associated genes is...
Precision medicine aims to predict a patient's disease risk and best therapeutic options by using th...
Precision medicine aims to predict a patient's disease risk and best therapeutic options by using th...
Precision medicine aims to predict a patient's disease risk and best therapeutic options by using th...
The CAGI-5 pericentriolar material 1 (PCM1) challenge aimed to predict the effect of 38 transgenic h...
The availability of disease-specific genomic data is critical for developing new computational metho...
The CAGI-5 pericentriolar material 1 (PCM1) challenge aimed to predict the effect of 38 transgenic h...
The sequencing of the human genome has opened up completely new avenues in research and the notion o...
Strict guidelines delimit the use of computational information in the clinical setting, due to the s...
The Critical Assessment of Genome Interpretation (CAGI) experiment is the first attempt to evaluate ...
The CAGI-4 Hopkins clinical panel challenge was an attempt to assess state of the art methods for cl...
Computational prediction methods are widely used for analysis of human genome sequence variants and ...
Whole-genome sequencing (WGS) holds great potential as a diagnostic test. However, the majority of p...
Testing for variation in BRCA1 and BRCA2 (commonly referred to as BRCA1/2), has emerged as a standar...
In silico approaches are routinely adopted to predict the effects of genetic variants and their rela...
Correct phenotypic interpretation of variants of unknown significance for cancer-associated genes is...
Precision medicine aims to predict a patient's disease risk and best therapeutic options by using th...
Precision medicine aims to predict a patient's disease risk and best therapeutic options by using th...
Precision medicine aims to predict a patient's disease risk and best therapeutic options by using th...
The CAGI-5 pericentriolar material 1 (PCM1) challenge aimed to predict the effect of 38 transgenic h...
The availability of disease-specific genomic data is critical for developing new computational metho...
The CAGI-5 pericentriolar material 1 (PCM1) challenge aimed to predict the effect of 38 transgenic h...
The sequencing of the human genome has opened up completely new avenues in research and the notion o...
Strict guidelines delimit the use of computational information in the clinical setting, due to the s...
The Critical Assessment of Genome Interpretation (CAGI) experiment is the first attempt to evaluate ...
The CAGI-4 Hopkins clinical panel challenge was an attempt to assess state of the art methods for cl...
Computational prediction methods are widely used for analysis of human genome sequence variants and ...
Whole-genome sequencing (WGS) holds great potential as a diagnostic test. However, the majority of p...
Testing for variation in BRCA1 and BRCA2 (commonly referred to as BRCA1/2), has emerged as a standar...