Semantic prioritization of novel causative genomic variants
نویسندگان
چکیده
منابع مشابه
Semantic prioritization of novel causative genomic variants
Discriminating the causative disease variant(s) for individuals with inherited or de novo mutations presents one of the main challenges faced by the clinical genetics community today. Computational approaches for variant prioritization include machine learning methods utilizing a large number of features, including molecular information, interaction networks, or phenotypes. Here, we demonstrate...
متن کاملPrioritization of Cancer-Related Genomic Variants by SNP Association Network
We have developed a general framework to construct an association network of single nucleotide polymorphisms (SNPs) (SNP association network, SAN) based on the functional interactions of genes located in the flanking regions of SNPs. SAN, which was constructed based on protein-protein interactions in the Human Protein Reference Database (HPRD), showed significantly enriched signals in both link...
متن کاملCorrection: An Integrative Computational Approach for Prioritization of Genomic Variants
[This corrects the article DOI: 10.1371/journal.pone.0114903.].
متن کاملInferring causative variants in microRNA target sites
MicroRNAs (miRNAs) regulate genes post transcription by pairing with messenger RNA (mRNA). Variants such as single nucleotide polymorphisms (SNPs) in miRNA regulatory regions might result in altered protein levels and disease. Genome-wide association studies (GWAS) aim at identifying genomic regions that contain variants associated with disease, but lack tools for finding causative variants. We...
متن کاملThe semantic network of causative MAKE
The verb MAKE is a one of the most intriguing verbs in the English language. Not only does it occur in various contexts and situations, but it also conveys a cluster of meanings, depending on the context of its use. Rather than dealing with all uses and meanings of MAKE, I will devote this paper to the study of the semantics of causative MAKE, that is the uses of MAKE with the complementation p...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: PLOS Computational Biology
سال: 2017
ISSN: 1553-7358
DOI: 10.1371/journal.pcbi.1005500