Probe-specific mixed-model approach to detect copy number differences using multiplex ligation-dependent probe amplification (MLPA).

Abstract:

BACKGROUND:MLPA method is a potentially useful semi-quantitative method to detect copy number alterations in targeted regions. In this paper, we propose a method for the normalization procedure based on a non-linear mixed-model, as well as a new approach for determining the statistical significance of altered probes based on linear mixed-model. This method establishes a threshold by using different tolerance intervals that accommodates the specific random error variability observed in each test sample. RESULTS:Through simulation studies we have shown that our proposed method outperforms two existing methods that are based on simple threshold rules or iterative regression. We have illustrated the method using a controlled MLPA assay in which targeted regions are variable in copy number in individuals suffering from different disorders such as Prader-Willi, DiGeorge or Autism showing the best performace. CONCLUSION:Using the proposed mixed-model, we are able to determine thresholds to decide whether a region is altered. These threholds are specific for each individual, incorporating experimental variability, resulting in improved sensitivity and specificity as the examples with real data have revealed.

journal_name

BMC Bioinformatics

journal_title

BMC bioinformatics

authors

González JR,Carrasco JL,Armengol L,Villatoro S,Jover L,Yasui Y,Estivill X

doi

10.1186/1471-2105-9-261

subject

Has Abstract

pub_date

2008-06-04 00:00:00

pages

261

issn

1471-2105

pii

1471-2105-9-261

journal_volume

9

pub_type

杂志文章
  • Finding sRNA generative locales from high-throughput sequencing data with NiBLS.

    abstract:BACKGROUND:Next-generation sequencing technologies allow researchers to obtain millions of sequence reads in a single experiment. One important use of the technology is the sequencing of small non-coding regulatory RNAs and the identification of the genomic locales from which they originate. Currently, there is a pauci...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-11-93

    authors: MacLean D,Moulton V,Studholme DJ

    更新日期:2010-02-18 00:00:00

  • MetaMIS: a metagenomic microbial interaction simulator based on microbial community profiles.

    abstract:BACKGROUND:The complexity and dynamics of microbial communities are major factors in the ecology of a system. With the NGS technique, metagenomics data provides a new way to explore microbial interactions. Lotka-Volterra models, which have been widely used to infer animal interactions in dynamic systems, have recently ...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-016-1359-0

    authors: Shaw GT,Pao YY,Wang D

    更新日期:2016-11-25 00:00:00

  • Reuse of imputed data in microarray analysis increases imputation efficiency.

    abstract:BACKGROUND:The imputation of missing values is necessary for the efficient use of DNA microarray data, because many clustering algorithms and some statistical analysis require a complete data set. A few imputation methods for DNA microarray data have been introduced, but the efficiency of the methods was low and the va...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-5-160

    authors: Kim KY,Kim BJ,Yi GS

    更新日期:2004-10-26 00:00:00

  • MicroSyn: a user friendly tool for detection of microsynteny in a gene family.

    abstract:BACKGROUND:The traditional phylogeny analysis within gene family is mainly based on DNA or amino acid sequence homologies. However, these phylogenetic tree analyses are not suitable for those "non-traditional" gene families like microRNA with very short sequences. For the normal protein-coding gene families, low bootst...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-12-79

    authors: Cai B,Yang X,Tuskan GA,Cheng ZM

    更新日期:2011-03-18 00:00:00

  • BioNanoAnalyst: a visualisation tool to assess genome assembly quality using BioNano data.

    abstract:BACKGROUND:Reference genome assemblies are valuable, as they provide insights into gene content, genetic evolution and domestication. The higher the quality of a reference genome assembly the more accurate the downstream analysis will be. During the last few years, major efforts have been made towards improving the qua...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-017-1735-4

    authors: Yuan Y,Bayer PE,Scheben A,Chan CK,Edwards D

    更新日期:2017-06-30 00:00:00

  • Correction to: Similarities and differences between variants called with human reference genome HG19 or HG38.

    abstract::After publication of this supplement article. ...

    journal_title:BMC bioinformatics

    pub_type: 已发布勘误

    doi:10.1186/s12859-019-2776-7

    authors: Pan B,Kusko R,Xiao W,Zheng Y,Liu Z,Xiao C,Sakkiah S,Guo W,Gong P,Zhang C,Ge W,Shi L,Tong W,Hong H

    更新日期:2019-05-15 00:00:00

  • An improved classification of G-protein-coupled receptors using sequence-derived features.

    abstract:BACKGROUND:G-protein-coupled receptors (GPCRs) play a key role in diverse physiological processes and are the targets of almost two-thirds of the marketed drugs. The 3 D structures of GPCRs are largely unavailable; however, a large number of GPCR primary sequences are known. To facilitate the identification and charact...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-11-420

    authors: Peng ZL,Yang JY,Chen X

    更新日期:2010-08-09 00:00:00

  • Hit integration for identifying optimal spaced seeds.

    abstract:BACKGROUND:Introduction of spaced speeds opened a way of sensitivity improvement in homology search without loss of search speed. Since then, the efforts of finding optimal seed which maximizes the sensitivity have been continued today. The sensitivity of a seed is generally computed by its hit probability. However, th...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-11-S1-S37

    authors: Chung WH,Park SB

    更新日期:2010-01-18 00:00:00

  • Constructing a meaningful evolutionary average at the phylogenetic center of mass.

    abstract:BACKGROUND:As a consequence of the evolutionary process, data collected from related species tend to be similar. This similarity by descent can obscure subtler signals in the data such as the evidence of constraint on variation due to shared selective pressures. In comparative sequence analysis, for example, sequence s...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-8-222

    authors: Stone EA,Sidow A

    更新日期:2007-06-26 00:00:00

  • Construction of phylogenetic trees by kernel-based comparative analysis of metabolic networks.

    abstract:BACKGROUND:To infer the tree of life requires knowledge of the common characteristics of each species descended from a common ancestor as the measuring criteria and a method to calculate the distance between the resulting values of each measure. Conventional phylogenetic analysis based on genomic sequences provides inf...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-7-284

    authors: Oh SJ,Joung JG,Chang JH,Zhang BT

    更新日期:2006-06-06 00:00:00

  • Identifying gene and protein mentions in text using conditional random fields.

    abstract:BACKGROUND:We present a model for tagging gene and protein mentions from text using the probabilistic sequence tagging framework of conditional random fields (CRFs). Conditional random fields model the probability P(t/o) of a tag sequence given an observation sequence directly, and have previously been employed success...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-6-S1-S6

    authors: McDonald R,Pereira F

    更新日期:2005-01-01 00:00:00

  • KRLMM: an adaptive genotype calling method for common and low frequency variants.

    abstract:BACKGROUND:SNP genotyping microarrays have revolutionized the study of complex disease. The current range of commercially available genotyping products contain extensive catalogues of low frequency and rare variants. Existing SNP calling algorithms have difficulty dealing with these low frequency variants, as the under...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-15-158

    authors: Liu R,Dai Z,Yeager M,Irizarry RA,Ritchie ME

    更新日期:2014-05-23 00:00:00

  • Ortholog-based protein-protein interaction prediction and its application to inter-species interactions.

    abstract:BACKGROUND:The rapid growth of protein-protein interaction (PPI) data has led to the emergence of PPI network analysis. Despite advances in high-throughput techniques, the interactomes of several model organisms are still far from complete. Therefore, it is desirable to expand these interactomes with ortholog-based and...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-9-S12-S11

    authors: Lee SA,Chan CH,Tsai CH,Lai JM,Wang FS,Kao CY,Huang CY

    更新日期:2008-12-12 00:00:00

  • Error, reproducibility and sensitivity: a pipeline for data processing of Agilent oligonucleotide expression arrays.

    abstract:BACKGROUND:Expression microarrays are increasingly used to obtain large scale transcriptomic information on a wide range of biological samples. Nevertheless, there is still much debate on the best ways to process data, to design experiments and analyse the output. Furthermore, many of the more sophisticated mathematica...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-11-344

    authors: Chain B,Bowen H,Hammond J,Posch W,Rasaiyaah J,Tsang J,Noursadeghi M

    更新日期:2010-06-24 00:00:00

  • A rapid and accurate approach for prediction of interactomes from co-elution data (PrInCE).

    abstract:BACKGROUND:An organism's protein interactome, or complete network of protein-protein interactions, defines the protein complexes that drive cellular processes. Techniques for studying protein complexes have traditionally applied targeted strategies such as yeast two-hybrid or affinity purification-mass spectrometry to ...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-017-1865-8

    authors: Stacey RG,Skinnider MA,Scott NE,Foster LJ

    更新日期:2017-10-23 00:00:00

  • An ensemble framework for identifying essential proteins.

    abstract:BACKGROUND:Many centrality measures have been proposed to mine and characterize the correlations between network topological properties and protein essentiality. However, most of them show limited prediction accuracy, and the number of common predicted essential proteins by different methods is very small. RESULTS:In ...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-016-1166-7

    authors: Zhang X,Xiao W,Acencio ML,Lemke N,Wang X

    更新日期:2016-08-25 00:00:00

  • Bioinformatics Resource Manager: a systems biology web tool for microRNA and omics data integration.

    abstract:BACKGROUND:The Bioinformatics Resource Manager (BRM) is a web-based tool developed to facilitate identifier conversion and data integration for Homo sapiens (human), Mus musculus (mouse), Rattus norvegicus (rat), Danio rerio (zebrafish), and Macaca mulatta (macaque), as well as perform orthologous conversions among the...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-019-2805-6

    authors: Brown J,Phillips AR,Lewis DA,Mans MA,Chang Y,Tanguay RL,Peterson ES,Waters KM,Tilton SC

    更新日期:2019-05-17 00:00:00

  • FIGENIX: intelligent automation of genomic annotation: expertise integration in a new software platform.

    abstract:BACKGROUND:Two of the main objectives of the genomic and post-genomic era are to structurally and functionally annotate genomes which consists of detecting genes' position and structure, and inferring their function (as well as of other features of genomes). Structural and functional annotation both require the complex...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-6-198

    authors: Gouret P,Vitiello V,Balandraud N,Gilles A,Pontarotti P,Danchin EG

    更新日期:2005-08-05 00:00:00

  • The ontology of biological sequences.

    abstract:BACKGROUND:Biological sequences play a major role in molecular and computational biology. They are studied as information-bearing entities that make up DNA, RNA or proteins. The Sequence Ontology, which is part of the OBO Foundry, contains descriptions and definitions of sequences and their properties. Yet the most bas...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-10-377

    authors: Hoehndorf R,Kelso J,Herre H

    更新日期:2009-11-18 00:00:00

  • PDB-UF: database of predicted enzymatic functions for unannotated protein structures from structural genomics.

    abstract:BACKGROUND:The number of protein structures from structural genomics centers dramatically increases in the Protein Data Bank (PDB). Many of these structures are functionally unannotated because they have no sequence similarity to proteins of known function. However, it is possible to successfully infer function using o...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-7-53

    authors: von Grotthuss M,Plewczynski D,Ginalski K,Rychlewski L,Shakhnovich EI

    更新日期:2006-02-06 00:00:00

  • Application of protein structure alignments to iterated hidden Markov model protocols for structure prediction.

    abstract:BACKGROUND:One of the most powerful methods for the prediction of protein structure from sequence information alone is the iterative construction of profile-type models. Because profiles are built from sequence alignments, the sequences included in the alignment and the method used to align them will be important to th...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-7-410

    authors: Scheeff ED,Bourne PE

    更新日期:2006-09-14 00:00:00

  • A comprehensive comparison of comparative RNA structure prediction approaches.

    abstract:BACKGROUND:An increasing number of researchers have released novel RNA structure analysis and prediction algorithms for comparative approaches to structure prediction. Yet, independent benchmarking of these algorithms is rarely performed as is now common practice for protein-folding, gene-finding and multiple-sequence-...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-5-140

    authors: Gardner PP,Giegerich R

    更新日期:2004-09-30 00:00:00

  • Robust detection of periodic time series measured from biological systems.

    abstract:BACKGROUND:Periodic phenomena are widespread in biology. The problem of finding periodicity in biological time series can be viewed as a multiple hypothesis testing of the spectral content of a given time series. The exact noise characteristics are unknown in many bioinformatics applications. Furthermore, the observed ...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-6-117

    authors: Ahdesmäki M,Lähdesmäki H,Pearson R,Huttunen H,Yli-Harja O

    更新日期:2005-05-13 00:00:00

  • Integrated olfactory receptor and microarray gene expression databases.

    abstract:BACKGROUND:Gene expression patterns of olfactory receptors (ORs) are an important component of the signal encoding mechanism in the olfactory system since they determine the interactions between odorant ligands and sensory neurons. We have developed the Olfactory Receptor Microarray Database (ORMD) to house OR gene exp...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-8-231

    authors: Liu N,Crasto CJ,Ma M

    更新日期:2007-06-30 00:00:00

  • NeatFreq: reference-free data reduction and coverage normalization for De Novo sequence assembly.

    abstract:BACKGROUND:Deep shotgun sequencing on next generation sequencing (NGS) platforms has contributed significant amounts of data to enrich our understanding of genomes, transcriptomes, amplified single-cell genomes, and metagenomes. However, deep coverage variations in short-read data sets and high sequencing error rates o...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-014-0357-3

    authors: McCorrison JM,Venepally P,Singh I,Fouts DE,Lasken RS,Methé BA

    更新日期:2014-11-19 00:00:00

  • Jaccard/Tanimoto similarity test and estimation methods for biological presence-absence data.

    abstract:BACKGROUND:A survey of presences and absences of specific species across multiple biogeographic units (or bioregions) are used in a broad area of biological studies from ecology to microbiology. Using binary presence-absence data, we evaluate species co-occurrences that help elucidate relationships among organisms and ...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-019-3118-5

    authors: Chung NC,Miasojedow B,Startek M,Gambin A

    更新日期:2019-12-24 00:00:00

  • ProLego: tool for extracting and visualizing topological modules in protein structures.

    abstract:BACKGROUND:In protein design, correct use of topology is among the initial and most critical feature. Meticulous selection of backbone topology aids in drastically reducing the structure search space. With ProLego, we present a server application to explore the component aspect of protein structures and provide an intu...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-018-2171-9

    authors: Khan T,Panday SK,Ghosh I

    更新日期:2018-05-04 00:00:00

  • Graph-representation of oxidative folding pathways.

    abstract:BACKGROUND:The process of oxidative folding combines the formation of native disulfide bond with conformational folding resulting in the native three-dimensional fold. Oxidative folding pathways can be described in terms of disulfide intermediate species (DIS) which can also be isolated and characterized. Each DIS corr...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-6-19

    authors: Agoston V,Cemazar M,Kaján L,Pongor S

    更新日期:2005-01-27 00:00:00

  • Robust pathway sampling in phenotype prediction. Application to triple negative breast cancer.

    abstract:BACKGROUND:Phenotype prediction problems are usually considered ill-posed, as the amount of samples is very limited with respect to the scrutinized genetic probes. This fact complicates the sampling of the defective genetic pathways due to the high number of possible discriminatory genetic networks involved. In this re...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/s12859-020-3356-6

    authors: Cernea A,Fernández-Martínez JL,deAndrés-Galiana EJ,Fernández-Ovies FJ,Alvarez-Machancoses O,Fernández-Muñiz Z,Saligan LN,Sonis ST

    更新日期:2020-03-11 00:00:00

  • GOAL: a software tool for assessing biological significance of genes groups.

    abstract:BACKGROUND:Modern high throughput experimental techniques such as DNA microarrays often result in large lists of genes. Computational biology tools such as clustering are then used to group together genes based on their similarity in expression profiles. Genes in each group are probably functionally related. The functi...

    journal_title:BMC bioinformatics

    pub_type: 杂志文章

    doi:10.1186/1471-2105-11-229

    authors: Tchagang AB,Gawronski A,Bérubé H,Phan S,Famili F,Pan Y

    更新日期:2010-05-06 00:00:00