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Title[redir]:
An integrative approach to predicting the functional effects of small indels in non-coding regions of the human genome - PMC
Description:
Small insertions and deletions (indels) have a significant influence in human disease and, in terms of frequency, they are second only to single nucleotide variants as pathogenic mutations. As the majority of mutations associated with complex traits ...
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Keywords {๐}
data, indels, doi, fathmmindel, variants, pathogenic, noncoding, google, scholar, pmc, pubmed, article, validation, mutations, performance, human, neutral, model, set, genome, free, functional, cadd, regions, benchmark, impact, sequence, methods, gavin, mutation, frequency, fathmmindels, predicting, genetic, cross, accuracy, balanced, models, server, variant, evs, score, small, web, populations, scores, kernel, class, roc, database,
Topics {โ๏ธ}
receiver operating characteristic matthews correlation coefficient gene-aware variant interpretation south asia hidden markov models support vector machine existing singleโnucleotide scores east asia single nucleotide variants exome variant server support vector machines performed model selection nested cross validation mrc grant mr/m01326x/1 mcc fathmm-indel machine learning approach strongest correlation epsrc grant ep/k008250/1 funding mf rogers mf functional variant roc curve displays microrna-146a promoter modulates distinct nucleotide positions allele frequency ncv experiment results variant prioritisation true negative rate pmc beta search study human exomes kernel machine performed high mcc false positive rates ten ncv loops authors read authors declare mafโฅ1% full genomes glb study small indels 1kg data set collect micro insertions/deletions vcf files variant 1kg project aims roc curve lowest number fn=81 afr frequency spectrum amino acid substitutions
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