Shuiwang Ji, Lei Yuan, Ying-Xin Li, Zhi-Hua Zhou, Sudhir Kumar, Jieping Ye
The Drosophila gene expression pattern images document the spatial and temporal dynamics of gene expression and they are valuable tools for explicating the gene functions, interaction, and networks during Drosophila embryogenesis. To provide text-based pattern searching, the images in the Berkeley Drosophila Genome Project (BDGP) study are annotated with ontology terms manually by human curators. We present a systematic approach for automating this task, because the number of images needing text descriptions is now rapidly increasing. We consider both improved feature representation and novel learning formulation to boost the annotation performance. For feature representation, we adapt the bag-of-words scheme commonly used in visual recognition problems so that the image group information in the BDGP study is retained. Moreover, images from multiple views can be integrated naturally in this representation. To reduce the quantization error caused by the bag-of-words representation, we propose an improved feature representation scheme based on the sparse learning technique. In the design of learning formulation, we propose a local regularization framework that can incorporate the correlations among terms explicitly. We further show that the resulting optimization problem admits an analytical solution. Experimental results show that the representation based on sparse learning outperforms the bag-of-words representation significantly. Results also show that incorporation of the term-term correlations improves the annotation performance consistently.
{"title":"Drosophila Gene Expression Pattern Annotation Using Sparse Features and Term-Term Interactions.","authors":"Shuiwang Ji, Lei Yuan, Ying-Xin Li, Zhi-Hua Zhou, Sudhir Kumar, Jieping Ye","doi":"10.1145/1557019.1557068","DOIUrl":"https://doi.org/10.1145/1557019.1557068","url":null,"abstract":"<p><p>The Drosophila gene expression pattern images document the spatial and temporal dynamics of gene expression and they are valuable tools for explicating the gene functions, interaction, and networks during Drosophila embryogenesis. To provide text-based pattern searching, the images in the Berkeley Drosophila Genome Project (BDGP) study are annotated with ontology terms manually by human curators. We present a systematic approach for automating this task, because the number of images needing text descriptions is now rapidly increasing. We consider both improved feature representation and novel learning formulation to boost the annotation performance. For feature representation, we adapt the bag-of-words scheme commonly used in visual recognition problems so that the image group information in the BDGP study is retained. Moreover, images from multiple views can be integrated naturally in this representation. To reduce the quantization error caused by the bag-of-words representation, we propose an improved feature representation scheme based on the sparse learning technique. In the design of learning formulation, we propose a local regularization framework that can incorporate the correlations among terms explicitly. We further show that the resulting optimization problem admits an analytical solution. Experimental results show that the representation based on sparse learning outperforms the bag-of-words representation significantly. Results also show that incorporation of the term-term correlations improves the annotation performance consistently.</p>","PeriodicalId":74037,"journal":{"name":"KDD : proceedings. International Conference on Knowledge Discovery & Data Mining","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2009-06-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1145/1557019.1557068","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"40111135","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Amr Ahmed, Eric P Xing, William W Cohen, Robert F Murphy
A major source of information (often the most crucial and informative part) in scholarly articles from scientific journals, proceedings and books are the figures that directly provide images and other graphical illustrations of key experimental results and other scientific contents. In biological articles, a typical figure often comprises multiple panels, accompanied by either scoped or global captioned text. Moreover, the text in the caption contains important semantic entities such as protein names, gene ontology, tissues labels, etc., relevant to the images in the figure. Due to the avalanche of biological literature in recent years, and increasing popularity of various bio-imaging techniques, automatic retrieval and summarization of biological information from literature figures has emerged as a major unsolved challenge in computational knowledge extraction and management in the life science. We present a new structured probabilistic topic model built on a realistic figure generation scheme to model the structurally annotated biological figures, and we derive an efficient inference algorithm based on collapsed Gibbs sampling for information retrieval and visualization. The resulting program constitutes one of the key IR engines in our SLIF system that has recently entered the final round (4 out 70 competing systems) of the Elsevier Grand Challenge on Knowledge Enhancement in the Life Science. Here we present various evaluations on a number of data mining tasks to illustrate our method.
{"title":"Structured Correspondence Topic Models for Mining Captioned Figures in Biological Literature.","authors":"Amr Ahmed, Eric P Xing, William W Cohen, Robert F Murphy","doi":"10.1145/1557019.1557031","DOIUrl":"https://doi.org/10.1145/1557019.1557031","url":null,"abstract":"<p><p>A major source of information (often the most crucial and informative part) in scholarly articles from scientific journals, proceedings and books are the figures that directly provide images and other graphical illustrations of key experimental results and other scientific contents. In biological articles, a typical figure often comprises multiple panels, accompanied by either scoped or global captioned text. Moreover, the text in the caption contains important semantic entities such as protein names, gene ontology, tissues labels, etc., relevant to the images in the figure. Due to the avalanche of biological literature in recent years, and increasing popularity of various bio-imaging techniques, automatic retrieval and summarization of biological information from literature figures has emerged as a major unsolved challenge in computational knowledge extraction and management in the life science. We present a new structured probabilistic topic model built on a realistic figure generation scheme to model the structurally annotated biological figures, and we derive an efficient inference algorithm based on collapsed Gibbs sampling for information retrieval and visualization. The resulting program constitutes one of the key IR engines in our SLIF system that has recently entered the final round (4 out 70 competing systems) of the Elsevier Grand Challenge on Knowledge Enhancement in the Life Science. Here we present various evaluations on a number of data mining tasks to illustrate our method.</p>","PeriodicalId":74037,"journal":{"name":"KDD : proceedings. International Conference on Knowledge Discovery & Data Mining","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2009-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1145/1557019.1557031","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"32889028","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Studying the association between quantitative phenotype (such as height or weight) and single nucleotide polymorphisms (SNPs) is an important problem in biology. To understand underlying mechanisms of complex phenotypes, it is often necessary to consider joint genetic effects across multiple SNPs. ANOVA (analysis of variance) test is routinely used in association study. Important findings from studying gene-gene (SNP-pair) interactions are appearing in the literature. However, the number of SNPs can be up to millions. Evaluating joint effects of SNPs is a challenging task even for SNP-pairs. Moreover, with large number of SNPs correlated, permutation procedure is preferred over simple Bonferroni correction for properly controlling family-wise error rate and retaining mapping power, which dramatically increases the computational cost of association study. In this paper, we study the problem of finding SNP-pairs that have significant associations with a given quantitative phenotype. We propose an efficient algorithm, FastANOVA, for performing ANOVA tests on SNP-pairs in a batch mode, which also supports large permutation test. We derive an upper bound of SNP-pair ANOVA test, which can be expressed as the sum of two terms. The first term is based on single-SNP ANOVA test. The second term is based on the SNPs and independent of any phenotype permutation. Furthermore, SNP-pairs can be organized into groups, each of which shares a common upper bound. This allows for maximum reuse of intermediate computation, efficient upper bound estimation, and effective SNP-pair pruning. Consequently, FastANOVA only needs to perform the ANOVA test on a small number of candidate SNP-pairs without the risk of missing any significant ones. Extensive experiments demonstrate that FastANOVA is orders of magnitude faster than the brute-force implementation of ANOVA tests on all SNP pairs.
{"title":"Fastanova: an efficient algorithm for genome-wide association study","authors":"Xiang Zhang, F. Zou, Wei Wang","doi":"10.1145/1401890.1401988","DOIUrl":"https://doi.org/10.1145/1401890.1401988","url":null,"abstract":"Studying the association between quantitative phenotype (such as height or weight) and single nucleotide polymorphisms (SNPs) is an important problem in biology. To understand underlying mechanisms of complex phenotypes, it is often necessary to consider joint genetic effects across multiple SNPs. ANOVA (analysis of variance) test is routinely used in association study. Important findings from studying gene-gene (SNP-pair) interactions are appearing in the literature. However, the number of SNPs can be up to millions. Evaluating joint effects of SNPs is a challenging task even for SNP-pairs. Moreover, with large number of SNPs correlated, permutation procedure is preferred over simple Bonferroni correction for properly controlling family-wise error rate and retaining mapping power, which dramatically increases the computational cost of association study.\u0000 In this paper, we study the problem of finding SNP-pairs that have significant associations with a given quantitative phenotype. We propose an efficient algorithm, FastANOVA, for performing ANOVA tests on SNP-pairs in a batch mode, which also supports large permutation test. We derive an upper bound of SNP-pair ANOVA test, which can be expressed as the sum of two terms. The first term is based on single-SNP ANOVA test. The second term is based on the SNPs and independent of any phenotype permutation. Furthermore, SNP-pairs can be organized into groups, each of which shares a common upper bound. This allows for maximum reuse of intermediate computation, efficient upper bound estimation, and effective SNP-pair pruning. Consequently, FastANOVA only needs to perform the ANOVA test on a small number of candidate SNP-pairs without the risk of missing any significant ones. Extensive experiments demonstrate that FastANOVA is orders of magnitude faster than the brute-force implementation of ANOVA tests on all SNP pairs.","PeriodicalId":74037,"journal":{"name":"KDD : proceedings. International Conference on Knowledge Discovery & Data Mining","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-08-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1145/1401890.1401988","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"64097531","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Studying the association between quantitative phenotype (such as height or weight) and single nucleotide polymorphisms (SNPs) is an important problem in biology. To understand underlying mechanisms of complex phenotypes, it is often necessary to consider joint genetic effects across multiple SNPs. ANOVA (analysis of variance) test is routinely used in association study. Important findings from studying gene-gene (SNP-pair) interactions are appearing in the literature. However, the number of SNPs can be up to millions. Evaluating joint effects of SNPs is a challenging task even for SNP-pairs. Moreover, with large number of SNPs correlated, permutation procedure is preferred over simple Bonferroni correction for properly controlling family-wise error rate and retaining mapping power, which dramatically increases the computational cost of association study.In this paper, we study the problem of finding SNP-pairs that have significant associations with a given quantitative phenotype. We propose an efficient algorithm, FastANOVA, for performing ANOVA tests on SNP-pairs in a batch mode, which also supports large permutation test. We derive an upper bound of SNP-pair ANOVA test, which can be expressed as the sum of two terms. The first term is based on single-SNP ANOVA test. The second term is based on the SNPs and independent of any phenotype permutation. Furthermore, SNP-pairs can be organized into groups, each of which shares a common upper bound. This allows for maximum reuse of intermediate computation, efficient upper bound estimation, and effective SNP-pair pruning. Consequently, FastANOVA only needs to perform the ANOVA test on a small number of candidate SNP-pairs without the risk of missing any significant ones. Extensive experiments demonstrate that FastANOVA is orders of magnitude faster than the brute-force implementation of ANOVA tests on all SNP pairs.
{"title":"FastANOVA: an Efficient Algorithm for Genome-Wide Association Study.","authors":"Xiang Zhang, Fei Zou, Wei Wang","doi":"","DOIUrl":"","url":null,"abstract":"<p><p>Studying the association between quantitative phenotype (such as height or weight) and single nucleotide polymorphisms (SNPs) is an important problem in biology. To understand underlying mechanisms of complex phenotypes, it is often necessary to consider joint genetic effects across multiple SNPs. ANOVA (analysis of variance) test is routinely used in association study. Important findings from studying gene-gene (SNP-pair) interactions are appearing in the literature. However, the number of SNPs can be up to millions. Evaluating joint effects of SNPs is a challenging task even for SNP-pairs. Moreover, with large number of SNPs correlated, permutation procedure is preferred over simple Bonferroni correction for properly controlling family-wise error rate and retaining mapping power, which dramatically increases the computational cost of association study.In this paper, we study the problem of finding SNP-pairs that have significant associations with a given quantitative phenotype. We propose an efficient algorithm, FastANOVA, for performing ANOVA tests on SNP-pairs in a batch mode, which also supports large permutation test. We derive an upper bound of SNP-pair ANOVA test, which can be expressed as the sum of two terms. The first term is based on single-SNP ANOVA test. The second term is based on the SNPs and independent of any phenotype permutation. Furthermore, SNP-pairs can be organized into groups, each of which shares a common upper bound. This allows for maximum reuse of intermediate computation, efficient upper bound estimation, and effective SNP-pair pruning. Consequently, FastANOVA only needs to perform the ANOVA test on a small number of candidate SNP-pairs without the risk of missing any significant ones. Extensive experiments demonstrate that FastANOVA is orders of magnitude faster than the brute-force implementation of ANOVA tests on all SNP pairs.</p>","PeriodicalId":74037,"journal":{"name":"KDD : proceedings. International Conference on Knowledge Discovery & Data Mining","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2008-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2951741/pdf/nihms-131999.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"29353218","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}