Sequencing technologies and tools for short tandem repeat variation detection.

Abstract:

:Short tandem repeats are highly polymorphic and associated with a wide range of phenotypic variation, some of which cause neurodegenerative disease in humans. With advances in high-throughput sequencing technologies, there are novel opportunities to study genetic variation. While available sequencing technologies and bioinformatics tools provide options for mining high-throughput sequencing data, their suitability for analysis of repeat variation is an open question, with tools for quantifying variability in repetitive sequence still in their infancy. We present here a comprehensive survey and empirical evaluation of current sequencing technologies and bioinformatics tools in all stages of an analysis pipeline. While there is not one optimal pipeline to suit all circumstances, we find that the choice of alignment and repeat genotyping tools greatly impacts the accuracy and efficiency by which short tandem repeat variation can be detected. We further note that to detect variation relevant to many repeat diseases, it is essential to choose technologies that offer either long read-lengths or paired-end sequencing, coupled with specific genotyping tools.

journal_name

Brief Bioinform

authors

Cao MD,Balasubramanian S,Bodén M

doi

10.1093/bib/bbu001

subject

Has Abstract

pub_date

2015-03-01 00:00:00

pages

193-204

issue

2

eissn

1467-5463

issn

1477-4054

pii

bbu001

journal_volume

16

pub_type

杂志文章,评审
  • Machine learning meets genome assembly.

    abstract:MOTIVATION:With the recent advances in DNA sequencing technologies, the study of the genetic composition of living organisms has become more accessible for researchers. Several advances have been achieved because of it, especially in the health sciences. However, many challenges which emerge from the complexity of sequ...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章,评审

    doi:10.1093/bib/bby072

    authors: Padovani de Souza K,Setubal JC,Ponce de Leon F de Carvalho AC,Oliveira G,Chateau A,Alves R

    更新日期:2019-11-27 00:00:00

  • GenoPheno: cataloging large-scale phenotypic and next-generation sequencing data within human datasets.

    abstract::Precision medicine promises to revolutionize treatment, shifting therapeutic approaches from the classical one-size-fits-all to those more tailored to the patient's individual genomic profile, lifestyle and environmental exposures. Yet, to advance precision medicine's main objective-ensuring the optimum diagnosis, tre...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/bbaa033

    authors: Gutiérrez-Sacristán A,De Niz C,Kothari C,Kong SW,Mandl KD,Avillach P

    更新日期:2021-01-18 00:00:00

  • Small noncoding RNA discovery and profiling with sRNAtools based on high-throughput sequencing.

    abstract::Small noncoding RNAs (sRNA/sncRNAs) are generated from different genomic loci and play important roles in biological processes, such as cell proliferation and the regulation of gene expression. Next-generation sequencing (NGS) has provided an unprecedented opportunity to discover and quantify diverse kinds of sncRNA, ...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/bbz151

    authors: Liu Q,Ding C,Lang X,Guo G,Chen J,Su X

    更新日期:2021-01-18 00:00:00

  • A solid quality-control analysis of AB SOLiD short-read sequencing data.

    abstract::Next generation sequencers have greatly improved our ability to mine polymorphisms and mutations out of entire (or portions of) genomes. The reliability of their outputs, though, showed to be very related to the sequencing chemistry and to deeply affect the quality of the downstream analyses. We focus here on the two-...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/bbs048

    authors: Castellana S,Romani M,Valente EM,Mazza T

    更新日期:2013-11-01 00:00:00

  • Are dropout imputation methods for scRNA-seq effective for scHi-C data?

    abstract::The prevalence of dropout events is a serious problem for single-cell Hi-C (scHiC) data due to insufficient sequencing depth and data coverage, which brings difficulties in downstream studies such as clustering and structural analysis. Complicating things further is the fact that dropouts are confounded with structura...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/bbaa289

    authors: Han C,Xie Q,Lin S

    更新日期:2020-11-17 00:00:00

  • HVIDB: a comprehensive database for human-virus protein-protein interactions.

    abstract::While leading to millions of people's deaths every year the treatment of viral infectious diseases remains a huge public health challenge.Therefore, an in-depth understanding of human-virus protein-protein interactions (PPIs) as the molecular interface between a virus and its host cell is of paramount importance to ob...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/bbaa425

    authors: Yang X,Lian X,Fu C,Wuchty S,Yang S,Zhang Z

    更新日期:2021-01-30 00:00:00

  • Evaluation of research in biomedical ontologies.

    abstract::Ontologies are now pervasive in biomedicine, where they serve as a means to standardize terminology, to enable access to domain knowledge, to verify data consistency and to facilitate integrative analyses over heterogeneous biomedical data. For this purpose, research on biomedical ontologies applies theories and metho...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/bbs053

    authors: Hoehndorf R,Dumontier M,Gkoutos GV

    更新日期:2013-11-01 00:00:00

  • Comprehensive characterization of tissue-specific circular RNAs in the human and mouse genomes.

    abstract::Circular RNA (circRNA) is a group of RNA family generated by RNA circularization, which was discovered ubiquitously across different species and tissues. However, there is no global view of tissue specificity for circRNAs to date. Here we performed the comprehensive analysis to characterize the features of human and m...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/bbw081

    authors: Xia S,Feng J,Lei L,Hu J,Xia L,Wang J,Xiang Y,Liu L,Zhong S,Han L,He C

    更新日期:2017-11-01 00:00:00

  • Structural database resources for biological macromolecules.

    abstract::This Briefing reviews the widely used, currently active, up-to-date databases derived from the worldwide Protein Data Bank (PDB) to facilitate browsing, finding and exploring its entries. These databases contain visualization and analysis tools tailored to specific kinds of molecules and interactions, often including ...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/bbw049

    authors: Abriata LA

    更新日期:2017-07-01 00:00:00

  • Understanding the unimodal distributions of cancer occurrence rates: it takes two factors for a cancer to occur.

    abstract::Data from the SEER reports reveal that the occurrence rate of a cancer type generally follows a unimodal distribution over age, peaking at an age that is cancer-type specific and ranges from 30+ through 70+. Previous studies attribute such bell-shaped distributions to the reduced proliferative potential in senior year...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/bbaa349

    authors: Qiu S,An Z,Tan R,He PA,Jing J,Li H,Wu S,Xu Y

    更新日期:2020-12-30 00:00:00

  • Bioinformatics approaches for genomics and post genomics applications of next-generation sequencing.

    abstract::Technical advances such as the development of molecular cloning, Sanger sequencing, PCR and oligonucleotide microarrays are key to our current capacity to sequence, annotate and study complete organismal genomes. Recent years have seen the development of a variety of so-called 'next-generation' sequencing platforms, w...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章,评审

    doi:10.1093/bib/bbp046

    authors: Horner DS,Pavesi G,Castrignanò T,De Meo PD,Liuni S,Sammeth M,Picardi E,Pesole G

    更新日期:2010-03-01 00:00:00

  • Identification and comprehensive characterization of lncRNAs with copy number variations and their driving transcriptional perturbed subpathways reveal functional significance for cancer.

    abstract::Numerous studies have shown that copy number variation (CNV) in lncRNA regions play critical roles in the initiation and progression of cancer. However, our knowledge about their functionalities is still limited. Here, we firstly provided a computational method to identify lncRNAs with copy number variation (lncRNAs-C...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/bbz113

    authors: Xu Y,Wu T,Li F,Dong Q,Wang J,Shang D,Xu Y,Zhang C,Dou Y,Hu C,Yang H,Zheng X,Zhang Y,Wang L,Li X

    更新日期:2020-12-01 00:00:00

  • In silico signaling modeling to understand cancer pathways and treatment responses.

    abstract::Precision medicine has changed thinking in cancer therapy, highlighting a better understanding of the individual clinical interventions. But what role do the drivers and pathways identified from pan-cancer genome analysis play in the tumor? In this letter, we will highlight the importance of in silico modeling in prec...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/bbz033

    authors: Kunz M,Jeromin J,Fuchs M,Christoph J,Veronesi G,Flentje M,Nietzer S,Dandekar G,Dandekar T

    更新日期:2020-05-21 00:00:00

  • Systems pharmacology in drug discovery and therapeutic insight for herbal medicines.

    abstract::Systems pharmacology is an emerging field that integrates systems biology and pharmacology to advance the process of drug discovery, development and the understanding of therapeutic mechanisms. The aim of the present work is to highlight the role that the systems pharmacology plays across the traditional herbal medici...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/bbt035

    authors: Huang C,Zheng C,Li Y,Wang Y,Lu A,Yang L

    更新日期:2014-09-01 00:00:00

  • Data warehousing in molecular biology.

    abstract::In the business and healthcare sectors data warehousing has provided effective solutions for information usage and knowledge discovery from databases. However, data warehousing applications in the biological research and development (R&D) sector are lagging far behind. The fuzziness and complexity of biological data r...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/1.2.190

    authors: Schönbach C,Kowalski-Saunders P,Brusic V

    更新日期:2000-05-01 00:00:00

  • iProt-Sub: a comprehensive package for accurately mapping and predicting protease-specific substrates and cleavage sites.

    abstract::Regulation of proteolysis plays a critical role in a myriad of important cellular processes. The key to better understanding the mechanisms that control this process is to identify the specific substrates that each protease targets. To address this, we have developed iProt-Sub, a powerful bioinformatics tool for the a...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章,评审

    doi:10.1093/bib/bby028

    authors: Song J,Wang Y,Li F,Akutsu T,Rawlings ND,Webb GI,Chou KC

    更新日期:2019-03-25 00:00:00

  • Data-driven rational biosynthesis design: from molecules to cell factories.

    abstract::A proliferation of chemical, reaction and enzyme databases, new computational methods and software tools for data-driven rational biosynthesis design have emerged in recent years. With the coming of the era of big data, particularly in the bio-medical field, data-driven rational biosynthesis design could potentially b...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/bbz065

    authors: Chen F,Yuan L,Ding S,Tian Y,Hu QN

    更新日期:2020-07-15 00:00:00

  • Protein structure prediction in genomics.

    abstract::As the number of completely sequenced genomes rapidly increases, including now the complete Human Genome sequence, the post-genomic problems of genome-scale protein structure determination and the issue of gene function identification become ever more pressing. In fact, these problems can be seen as interrelated in th...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章,评审

    doi:10.1093/bib/2.2.111

    authors: Jones DT

    更新日期:2001-05-01 00:00:00

  • Comparative study of computational methods to detect the correlated reaction sets in biochemical networks.

    abstract::Correlated reaction sets (Co-Sets) are mathematically defined modules in biochemical reaction networks which facilitate the study of biological processes by decomposing complex reaction networks into conceptually simple units. According to the degree of association, Co-Sets can be classified into three types: perfect,...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/bbp068

    authors: Xi Y,Chen YP,Qian C,Wang F

    更新日期:2011-03-01 00:00:00

  • Proteome-scale analysis of phase-separated proteins in immunofluorescence images.

    abstract::Phase separation is an important mechanism that mediates the spatial distribution of proteins in different cellular compartments. While phase-separated proteins share certain sequence characteristics, including intrinsically disordered regions (IDRs) and prion-like domains, such characteristics are insufficient for ma...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/bbaa187

    authors: Yu C,Shen B,You K,Huang Q,Shi M,Wu C,Chen Y,Zhang C,Li T

    更新日期:2020-09-02 00:00:00

  • SurvivalMeth: a web server to investigate the effect of DNA methylation-related functional elements on prognosis.

    abstract::Aberrant DNA methylation is a fundamental characterization of epigenetics for carcinogenesis. Abnormality of DNA methylation-related functional elements (DMFEs) may lead to dysfunction of regulatory genes in the progression of cancers, contributing to prognosis of many cancers. There is an urgent need to construct a t...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/bbaa162

    authors: Zhang C,Zhao N,Zhang X,Xiao J,Li J,Lv D,Zhou W,Li Y,Xu J,Li X

    更新日期:2020-08-11 00:00:00

  • Molecular dynamics simulations for genetic interpretation in protein coding regions: where we are, where to go and when.

    abstract::The increasing ease with which massive genetic information can be obtained from patients or healthy individuals has stimulated the development of interpretive bioinformatics tools as aids in clinical practice. Most such tools analyze evolutionary information and simple physical-chemical properties to predict whether r...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/bbz146

    authors: Galano-Frutos JJ,García-Cebollada H,Sancho J

    更新日期:2021-01-18 00:00:00

  • A comprehensive review and comparison of different computational methods for protein remote homology detection.

    abstract::Protein remote homology detection is one of the most fundamental and central problems for the studies of protein structures and functions, aiming to detect the distantly evolutionary relationships among proteins via computational methods. During the past decades, many computational approaches have been proposed to sol...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章,评审

    doi:10.1093/bib/bbw108

    authors: Chen J,Guo M,Wang X,Liu B

    更新日期:2018-03-01 00:00:00

  • Strategies for calibrating models of biology.

    abstract::Computational and mathematical modelling has become a valuable tool for investigating biological systems. Modelling enables prediction of how biological components interact to deliver system-level properties and extrapolation of biological system performance to contexts and experimental conditions where this is unknow...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/bby092

    authors: Read MN,Alden K,Timmis J,Andrews PS

    更新日期:2018-09-18 00:00:00

  • Advanced bioinformatics methods for practical applications in proteomics.

    abstract::Mass spectrometry (MS)-based proteomics has undergone rapid advancements in recent years, creating challenging problems for bioinformatics. We focus on four aspects where bioinformatics plays a crucial role (and proteomics is needed for clinical application): peptide-spectra matching (PSM) based on the new data-indepe...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/bbx128

    authors: Goh WWB,Wong L

    更新日期:2019-01-18 00:00:00

  • Computational prediction and analysis of species-specific fungi phosphorylation via feature optimization strategy.

    abstract::Protein phosphorylation is a reversible and ubiquitous post-translational modification that primarily occurs at serine, threonine and tyrosine residues and regulates a variety of biological processes. In this paper, we first briefly summarized the current progresses in computational prediction of eukaryotic protein ph...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/bby122

    authors: Cao M,Chen G,Yu J,Shi S

    更新日期:2020-03-23 00:00:00

  • Characteristics and evolution of the ecosystem of software tools supporting research in molecular biology.

    abstract::Daily work in molecular biology presently depends on a large number of computational tools. An in-depth, large-scale study of that 'ecosystem' of Web tools, its characteristics, interconnectivity, patterns of usage/citation, temporal evolution and rate of decay is crucial for understanding the forces that shape it and...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/bby001

    authors: Pazos F,Chagoyen M

    更新日期:2019-07-19 00:00:00

  • Evaluation of gene-drug common module identification methods using pharmacogenomics data.

    abstract::Accurately identifying the interactions between genomic factors and the response of cancer drugs plays important roles in drug discovery, drug repositioning and cancer treatment. A number of studies revealed that interactions between genes and drugs were 'many-genes-to-many drugs' interactions, i.e. common modules, op...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/bbaa087

    authors: Huang J,Chen J,Zhang B,Zhu L,Cai H

    更新日期:2020-06-26 00:00:00

  • Computational knowledge integration in biopharmaceutical research.

    abstract::An initiative to increase biopharmaceutical research productivity by capturing, sharing and computationally integrating proprietary scientific discoveries with public knowledge is described. This initiative involves both organisational process change and multiple interoperating software systems. The software component...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/4.3.260

    authors: Ficenec D,Osborne M,Pradines J,Richards D,Felciano R,Cho RJ,Chen RO,Liefeld T,Owen J,Ruttenberg A,Reich C,Horvath J,Clark T

    更新日期:2003-09-01 00:00:00

  • Dynamics of transcriptional and post-transcriptional regulation.

    abstract::Despite gene expression programs being notoriously complex, RNA abundance is usually assumed as a proxy for transcriptional activity. Recently developed approaches, able to disentangle transcriptional and post-transcriptional regulatory processes, have revealed a more complex scenario. It is now possible to work out h...

    journal_title:Briefings in bioinformatics

    pub_type: 杂志文章

    doi:10.1093/bib/bbaa389

    authors: Furlan M,de Pretis S,Pelizzola M

    更新日期:2020-12-22 00:00:00