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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
High-throughput sequencing platforms are generating massive amounts of genetic variation data for diverse genomes, but it remains a challenge to pinpoint a small subset of functionally importantExpand
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PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data.
Comprehensive identification and cataloging of copy number variations (CNVs) is required to provide a complete view of human genetic variation. The resolution of CNV detection in previousExpand
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End-to-end scene text recognition
This paper focuses on the problem of word detection and recognition in natural images. The problem is significantly more challenging than reading text in scanned documents, and has only recentlyExpand
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Circular RNAs are abundant, conserved, and associated with ALU repeats.
Circular RNAs composed of exonic sequence have been described in a small number of genes. Thought to result from splicing errors, circular RNA species possess no known function. To delineate theExpand
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MapSplice: Accurate mapping of RNA-seq reads for splice junction discovery
The accurate mapping of reads that span splice junctions is a critical component of all analytic techniques that work with RNA-seq data. We introduce a second generation splice detection algorithm,Expand
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Pathway-based approaches for analysis of genomewide association studies.
Published genomewide association (GWA) studies typically analyze and report single-nucleotide polymorphisms (SNPs) and their neighboring genes with the strongest evidence of association (theExpand
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Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurologicalExpand
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Autism genome-wide copy number variation reveals ubiquitin and neuronal genes
Autism spectrum disorders (ASDs) are childhood neurodevelopmental disorders with complex genetic origins. Previous studies focusing on candidate genes or genomic regions have identified several copyExpand
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Circulating microRNAs, potential biomarkers for drug-induced liver injury
Drug-induced liver injury is a frequent side effect of many drugs, constitutes a significant threat to patient health and has an enormous economic impact on health care expenditures. Numerous effortsExpand
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Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies.
Accurate deleteriousness prediction for nonsynonymous variants is crucial for distinguishing pathogenic mutations from background polymorphisms in whole exome sequencing (WES) studies. Although manyExpand
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