Dataset used for testing the calibration of 6 methods for predicting the impact of single nucleotide variants in the publication: Benevenuta S, Capriotti E, Fariselli P. (2021). Calibrating variant-scoring methods for clinical decision making. Bioinformatics. DOI: 10.1093/bioinformatics/btaa943. The file contains the following columns: CHROM: Chromosome number POS: Chromosome coordinate REF: Reference Allele ALT: Alternative Allele Coding: Coding Variants (Yes/No) Effect: Variant impact (Pathogenic/Benign) DANN: DANN output PhDSNP: PhD-SNPg output FATHMM: FATHMM output CADD: CADD output DeepSea: DeepSea output Eigen: Eigen outputFunding: Italian Ministry of Education, University and Research (MIUR-PRIN...
The analysis of structural variants, in particular of copy-number variations (CNVs), has proven valu...
Introduction: Variants in 5′ and 3′ untranslated regions (UTR) contribute to rare disease. While pre...
Introduction: Variants in 5′ and 3′ untranslated regions (UTR) contribute to rare disease. While pre...
Identifying pathogenic variants and annotating them is a major challenge in human genetics, especial...
Primary analysis files for bioRxiv manuscript with id 2019/859603 (https://www.biorxiv.org/content/1...
Computational tools are widely used for interpreting variants detected in sequencing projects. The c...
<div><p>An important message taken from human genome sequencing projects is that the human populatio...
Success rate of the coincidence rule, for the all the different combinations of reference predictors...
Simulation output and Genome-wide scan for nIBD variants in UK10K data as reported in: Identifying ...
Introduction: Variants in 5′ and 3′ untranslated regions (UTR) contribute to rare disease. While pre...
Neutral variants. Each line corresponds to a variant, providing: the amino acid replacement and its ...
Single nucleotide variants represent a prevalent form of genetic variation. Mutations in the coding ...
PURPOSE: Genomic test results, regardless of laboratory variant classification, require clinical pra...
Several minority variant callers have been developed to describe the minority variants sub-populatio...
Introduction: Variants in 5′ and 3′ untranslated regions (UTR) contribute to rare disease. While pre...
The analysis of structural variants, in particular of copy-number variations (CNVs), has proven valu...
Introduction: Variants in 5′ and 3′ untranslated regions (UTR) contribute to rare disease. While pre...
Introduction: Variants in 5′ and 3′ untranslated regions (UTR) contribute to rare disease. While pre...
Identifying pathogenic variants and annotating them is a major challenge in human genetics, especial...
Primary analysis files for bioRxiv manuscript with id 2019/859603 (https://www.biorxiv.org/content/1...
Computational tools are widely used for interpreting variants detected in sequencing projects. The c...
<div><p>An important message taken from human genome sequencing projects is that the human populatio...
Success rate of the coincidence rule, for the all the different combinations of reference predictors...
Simulation output and Genome-wide scan for nIBD variants in UK10K data as reported in: Identifying ...
Introduction: Variants in 5′ and 3′ untranslated regions (UTR) contribute to rare disease. While pre...
Neutral variants. Each line corresponds to a variant, providing: the amino acid replacement and its ...
Single nucleotide variants represent a prevalent form of genetic variation. Mutations in the coding ...
PURPOSE: Genomic test results, regardless of laboratory variant classification, require clinical pra...
Several minority variant callers have been developed to describe the minority variants sub-populatio...
Introduction: Variants in 5′ and 3′ untranslated regions (UTR) contribute to rare disease. While pre...
The analysis of structural variants, in particular of copy-number variations (CNVs), has proven valu...
Introduction: Variants in 5′ and 3′ untranslated regions (UTR) contribute to rare disease. While pre...
Introduction: Variants in 5′ and 3′ untranslated regions (UTR) contribute to rare disease. While pre...