88 research outputs found
Identifying interacting genetic variations by fish-swarm logic regression
Understanding associations between genotypes and complex traits is a fundamental problem in human genetics. A major open problem in mapping phenotypes is that of identifying a set of interacting genetic variants, which might contribute to complex traits. Logic regression (LR) is a powerful multivariant association tool. Several LR-based approaches have been successfully applied to different datasets. However, these approaches are not adequate with regard to accuracy and efficiency. In this paper, we propose a new LR-based approach, called fish-swarm logic regression (FSLR), which improves the logic regression process by incorporating swarm optimization. In our approach, a school of fish agents are conducted in parallel. Each fish agent holds a regression model, while the school searches for better models through various preset behaviors. A swarm algorithm improves the accuracy and the efficiency by speeding up the convergence and preventing it from dropping into local optimums. We apply our approach on a real screening dataset and a series of simulation scenarios. Compared to three existing LR-based approaches, our approach outperforms them by having lower type I and type II error rates, being able to identify more preset causal sites, and performing at faster speeds
The Missed Patient With Diabetes: How access to health care affects the detection of diabetes
OBJECTIVE—This study examined the association between access to health care and three classifications of diabetes status: diagnosed, undiagnosed, and no diabetes
Query-dominant User Interest Network for Large-Scale Search Ranking
Historical behaviors have shown great effect and potential in various
prediction tasks, including recommendation and information retrieval. The
overall historical behaviors are various but noisy while search behaviors are
always sparse. Most existing approaches in personalized search ranking adopt
the sparse search behaviors to learn representation with bottleneck, which do
not sufficiently exploit the crucial long-term interest. In fact, there is no
doubt that user long-term interest is various but noisy for instant search, and
how to exploit it well still remains an open problem.
To tackle this problem, in this work, we propose a novel model named
Query-dominant user Interest Network (QIN), including two cascade units to
filter the raw user behaviors and reweigh the behavior subsequences.
Specifically, we propose a relevance search unit (RSU), which aims to search a
subsequence relevant to the query first and then search the sub-subsequences
relevant to the target item. These items are then fed into an attention unit
called Fused Attention Unit (FAU). It should be able to calculate attention
scores from the ID field and attribute field separately, and then adaptively
fuse the item embedding and content embedding based on the user engagement of
past period. Extensive experiments and ablation studies on real-world datasets
demonstrate the superiority of our model over state-of-the-art methods. The QIN
now has been successfully deployed on Kuaishou search, an online video search
platform, and obtained 7.6% improvement on CTR.Comment: 10 page
Cancer LncRNA Census reveals evidence for deep functional conservation of long noncoding RNAs in tumorigenesis.
Long non-coding RNAs (lncRNAs) are a growing focus of cancer genomics studies, creating the need for a resource of lncRNAs with validated cancer roles. Furthermore, it remains debated whether mutated lncRNAs can drive tumorigenesis, and whether such functions could be conserved during evolution. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, we introduce the Cancer LncRNA Census (CLC), a compilation of 122 GENCODE lncRNAs with causal roles in cancer phenotypes. In contrast to existing databases, CLC requires strong functional or genetic evidence. CLC genes are enriched amongst driver genes predicted from somatic mutations, and display characteristic genomic features. Strikingly, CLC genes are enriched for driver mutations from unbiased, genome-wide transposon-mutagenesis screens in mice. We identified 10 tumour-causing mutations in orthologues of 8 lncRNAs, including LINC-PINT and NEAT1, but not MALAT1. Thus CLC represents a dataset of high-confidence cancer lncRNAs. Mutagenesis maps are a novel means for identifying deeply-conserved roles of lncRNAs in tumorigenesis
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Analyses of non-coding somatic drivers in 2,658 cancer whole genomes.
The discovery of drivers of cancer has traditionally focused on protein-coding genes1-4. Here we present analyses of driver point mutations and structural variants in non-coding regions across 2,658 genomes from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium5 of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). For point mutations, we developed a statistically rigorous strategy for combining significance levels from multiple methods of driver discovery that overcomes the limitations of individual methods. For structural variants, we present two methods of driver discovery, and identify regions that are significantly affected by recurrent breakpoints and recurrent somatic juxtapositions. Our analyses confirm previously reported drivers6,7, raise doubts about others and identify novel candidates, including point mutations in the 5' region of TP53, in the 3' untranslated regions of NFKBIZ and TOB1, focal deletions in BRD4 and rearrangements in the loci of AKR1C genes. We show that although point mutations and structural variants that drive cancer are less frequent in non-coding genes and regulatory sequences than in protein-coding genes, additional examples of these drivers will be found as more cancer genomes become available
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples
Funder: NCI U24CA211006Abstract: The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the ICGC/TCGA Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, which aggregated whole genome sequencing data from 2,658 cancers across 38 tumour types, we compare WES and WGS side-by-side from 746 TCGA samples, finding that ~80% of mutations overlap in covered exonic regions. We estimate that low variant allele fraction (VAF < 15%) and clonal heterogeneity contribute up to 68% of private WGS mutations and 71% of private WES mutations. We observe that ~30% of private WGS mutations trace to mutations identified by a single variant caller in WES consensus efforts. WGS captures both ~50% more variation in exonic regions and un-observed mutations in loci with variable GC-content. Together, our analysis highlights technological divergences between two reproducible somatic variant detection efforts
Auditory Cryptography Security Algorithm With Audio Shelters
AbstractIn this paper, auditory cryptography security algorithm with audio shelters is proposed. The meaningful audio watermarking is pretreated to high-fidelity binary audio, and the binary audio is encrypted to n cryptographic audios by (k, n) threshold scheme. Less than k of the cryptographic audios give no information, only synchronized playing k or more than k of the audios the original can be heard directly. The n cryptographic audios are embedded in the corresponding n shelter audios which are pretreated by high-dimensional matrix transformation. Experiments show that the proposed algorithm has strong practicability, high security and robustness in enduring common attacks
An Efficient Algorithm for Sensitively Detecting Circular RNA from RNA-seq Data
Circular RNA (circRNA) is an important member of non-coding RNA family. Numerous computational methods for detecting circRNAs from RNA-seq data have been developed in the past few years, but there are dramatic differences among the algorithms regarding the balancing of the sensitivity and precision of the detection and filtering strategies. To further improve the sensitivity, while maintaining an acceptable precision of circRNA detection, a novel and efficient de novo detection algorithm, CIRCPlus, is proposed in this paper. CIRCPlus accurately locates circRNA candidates by identifying a set of back-spliced junction reads by comparing the local similar sequence of each pair of spanning junction reads. This strategy, thus, utilizes the important information provided by unbalanced spanning reads, which facilitates the detection especially when the expression levels of circRNA are unapparent. The performance of CIRCPlus was tested and compared to the existing de novo methods on the real datasets as well as a series of simulation datasets with different configurations. The experiment results demonstrated that the sensitivities of CIRCPlus were able to reach 90% in common simulation settings, while CIRCPlus held balanced sensitivity and reliability on the real datasets according to an objective assessment criteria based on RNase R-treated samples. The software tool is available for academic uses only
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