PubMed Health⌕ Search
Home/Archive/PubMed

PubMed · 12584131

Redundancy based detection of sequence polymorphisms in expressed sequence tag data using autoSNP.

Gary Barker·Jacqueline Batley·Helen O' Sullivan·Keith J Edwards·David Edwards
View original source ↗Export metadata ↓

Abstract

UNLABELLED: AutoSNP is a program to detect single nucleotide polymorphisms (SNPs) and insertion/deletion polymorphisms (indels) in expressed sequence tag (EST) data. The program uses d2cluster and cap3 to cluster and align EST sequences, and uses redundancy to differentiate between candidate SNPs and sequence errors. Candidate polymorphisms are identified as occurring in multiple reads within an alignment. For each candidate SNP, two measures of confidence are calculated, the redundancy of the polymorphism at a SNP locus and the co segregation of the candidate SNP with other SNPs in the alignment. AVAILABILITY: The program was written in PERL and is freely available to non-commercial users by request from the authors.

Explore related subjects

Cluster AnalysisExpressed Sequence TagsGenetic MarkersPolymorphism, Single NucleotideSequence AlignmentSequence Analysis, DNASoftwareZea maysEvaluation StudyJournal ArticleResearch Support, Non-U.S. Gov't

Keep this discovery

Explore connections, maps & timelines

BibTeXRIS

Gary Barker, Jacqueline Batley, Helen O' Sullivan, Keith J Edwards, David Edwards. 2003-02-12. Redundancy based detection of sequence polymorphisms in expressed sequence tag data using autoSNP.. https://doi.org/10.1093/bioinformatics%2Fbtf881

Cite the original work for its findings. Save a collection to share your selection of sources.

KEEP EXPLORING

Related citations

PubMed2025

Clustering individuals using INMTD: a novel versatile multi-view embedding framework integrating omics and imaging data.

MOTIVATION: Combining omics and images can lead to a more comprehensive clustering of individuals than classic single-view approaches. Among the various approaches for multi-view clustering, nonnegative matrix tri-factorization (NMTF) and nonnegative Tucker decomposition (NTD) are advantageous in learning low-rank embeddings with promising interpretability. Besides, there is a need to handle unwanted drivers of clusterings (i.e. confounders). RESULTS: In this work, we introduce a novel multi-view clustering method based on NMTF and NTD, named INMTD, which integrates omics and 3D imaging data to derive unconfounded subgroups of individuals. According to the adjusted Rand index, INMTD outperformed other clustering methods on a synthetic dataset with known clusters. In the application to real-life facial-genomic data, INMTD generated biologically relevant embeddings for individuals, genetics, and facial morphology. By removing confounded embedding vectors, we derived an unconfounded clustering with better internal and external quality; the genetic and facial annotations of each derived subgroup highlighted distinctive characteristics. In conclusion, INMTD can effectively integrate omics data and 3D images for unconfounded clustering with biologically meaningful interpretation. AVAILABILITY AND IMPLEMENTATION: INMTD is freely available at https://github.com/ZuqiLi/INMTD.

Cluster Analysis↗
PubMed2007

Relative efficiency of unequal versus equal cluster sizes in cluster randomized and multicentre trials.

Cluster randomized and multicentre trials evaluate the effect of a treatment on persons nested within clusters, for instance, patients within clinics or pupils within schools. Optimal sample sizes at the cluster (centre) and person level have been derived under the restrictive assumption of equal sample sizes per cluster. This paper addresses the relative efficiency of unequal versus equal cluster sizes in case of cluster randomization and person randomization within clusters. Starting from maximum likelihood parameter estimation, the relative efficiency is investigated numerically for a range of cluster size distributions. An approximate formula is presented for computing the relative efficiency as a function of the mean and variance of cluster size and the intraclass correlation, which can be used for adjusting the sample size. The accuracy of this formula is checked against the numerical results and found to be quite good. It is concluded that the loss of efficiency due to variation of cluster sizes rarely exceeds 10 per cent and can be compensated by sampling 11 per cent more clusters.

Cluster Analysis↗
PubMed2007

A spatial scan statistic for ordinal data.

Spatial scan statistics are widely used for count data to detect geographical disease clusters of high or low incidence, mortality or prevalence and to evaluate their statistical significance. Some data are ordinal or continuous in nature, however, so that it is necessary to dichotomize the data to use a traditional scan statistic for count data. There is then a loss of information and the choice of cut-off point is often arbitrary. In this paper, we propose a spatial scan statistic for ordinal data, which allows us to analyse such data incorporating the ordinal structure without making any further assumptions. The test statistic is based on a likelihood ratio test and evaluated using Monte Carlo hypothesis testing. The proposed method is illustrated using prostate cancer grade and stage data from the Maryland Cancer Registry. The statistical power, sensitivity and positive predicted value of the test are examined through a simulation study.

Cluster Analysis↗