Article

Frequency Conservation Score (FCS): the power of conservation and allele frequency for variant pathogenic prediction

2019-10-15

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Prediction of pathogenic variants is one of the biggest challenges for researchers and clinicians in the time of next-generation sequencing technologies. Stratification of individuals based on truly pathogenic variants might lead to improved, personalized treatments. <h4>Results</h4> We present Frequency Conservation Score (FCS) and Frequency Conservation Score for Mitochon...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d9c67782-a73e-5aba-b332-41d04f906dca
DOI: 10.1101/805051

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Frequency Conservation Score (FCS): the power of conservation and allele frequency for variant pathogenic predictionDOI 10.1101/805051Read

How good are pathogenicity predictors in detecting benign variants?Semantic proximity Read

SSCM: A method to analyze and predict the pathogenicity of sequence variantsSemantic proximity Read

Variant pathogenic prediction by locus variability, the importance of the last picture of evolutionSemantic proximity Read

A novel phylogenetic analysis and machine learning predict pathogenicity of human mtDNA variantsSemantic proximity Read

Evaluation of computational techniques for predicting non-synonymous single nucleotide variants pathogenicity.Semantic proximity Read

SyMetrics: an integrated machine learning model for evaluating the pathogenicity of synonymous variants in the human genome.Semantic proximity Read

mirVAFC: A Web Server for Prioritizations of Pathogenic Sequence Variants from Exome Sequencing Data via Classifications.Semantic proximity Read

SyMetrics: An Integrated Machine Learning Model for Evaluating the Pathogenicity of Synonymous Variants in the Human GenomeSemantic proximity Read

Variant pathogenic prediction models VSRFM and VSRFM-s, the importance of splicing and allele frequencySemantic proximity Read

Variant pathogenic prediction by locus variability: the importance of the current picture of evolution.Semantic proximity Read

SVScore: An Impact Prediction Tool For Structural VariationSemantic proximity Read

Assessment of 13 in silico pathogenicity methods on cancer-related variants.Semantic proximity Read