XCAVATOR: accurate detection and genotyping of copy number variants from second and third generation whole-genome sequencing experiments.

Abstract:

BACKGROUND:We developed a novel software package, XCAVATOR, for the identification of genomic regions involved in copy number variants/alterations (CNVs/CNAs) from short and long reads whole-genome sequencing experiments. RESULTS:By using simulated and real datasets we showed that our tool, based on read count approach, is capable to predict the boundaries and the absolute number of DNA copies CNVs/CNAs with high resolutions. To demonstrate the power of our software we applied it to the analysis Illumina and Pacific Bioscencies data and we compared its performance to other ten state of the art tools. CONCLUSION:All the analyses we performed demonstrate that XCAVATOR is capable to detect germline and somatic CNVs/CNAs outperforming all the other tools we compared. XCAVATOR is freely available at http://sourceforge.net/projects/xcavator/ .

journal_name

BMC Genomics

journal_title

BMC genomics

authors

Magi A,Pippucci T,Sidore C

doi

10.1186/s12864-017-4137-0

subject

Has Abstract

pub_date

2017-09-21 00:00:00

pages

747

issue

1

issn

1471-2164

pii

10.1186/s12864-017-4137-0

journal_volume

18

pub_type

杂志文章
  • Multiple genetic loci define Ca++ utilization by bloodstream malaria parasites.

    abstract:BACKGROUND:Bloodstream malaria parasites require Ca++ for their development, but the sites and mechanisms of Ca++ utilization are not well understood. We hypothesized that there may be differences in Ca++ uptake or utilization by genetically distinct lines of P. falciparum. These differences, if identified, may provide...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-018-5418-y

    authors: Apolis L,Olivas J,Srinivasan P,Kushwaha AK,Desai SA

    更新日期:2019-01-16 00:00:00

  • Site-specific mobilization of vinyl chloride respiration islands by a mechanism common in Dehalococcoides.

    abstract:BACKGROUND:Vinyl chloride is a widespread groundwater pollutant and Group 1 carcinogen. A previous comparative genomic analysis revealed that the vinyl chloride reductase operon, vcrABC, of Dehalococcoides sp. strain VS is embedded in a horizontally-acquired genomic island that integrated at the single-copy tmRNA gene,...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-12-287

    authors: McMurdie PJ,Hug LA,Edwards EA,Holmes S,Spormann AM

    更新日期:2011-06-02 00:00:00

  • Methods for high-throughput MethylCap-Seq data analysis.

    abstract:BACKGROUND:Advances in whole genome profiling have revolutionized the cancer research field, but at the same time have raised new bioinformatics challenges. For next generation sequencing (NGS), these include data storage, computational costs, sequence processing and alignment, delineating appropriate statistical measu...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-13-S6-S14

    authors: Rodriguez BA,Frankhouser D,Murphy M,Trimarchi M,Tam HH,Curfman J,Huang R,Chan MW,Lai HC,Parikh D,Ball B,Schwind S,Blum W,Marcucci G,Yan P,Bundschuh R

    更新日期:2012-01-01 00:00:00

  • Global assessment of organ specific basal gene expression over a diurnal cycle with analyses of gene copies exhibiting cyclic expression patterns.

    abstract:BACKGROUND:Studying functional divergences between paralogs that originated from genome duplication is a significant topic in investigating molecular evolution. Genes that exhibit basal level cyclic expression patterns including circadian and light responsive genes are important physiological regulators. Temporal shift...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-020-07202-9

    authors: Lu Y,Boswell M,Boswell W,Salinas RY,Savage M,Reyes J,Walter S,Marks R,Gonzalez T,Medrano G,Warren WC,Schartl M,Walter RB

    更新日期:2020-11-11 00:00:00

  • Full-length cDNA sequences from Rhesus monkey placenta tissue: analysis and utility for comparative mapping.

    abstract:BACKGROUND:Rhesus monkeys (Macaca mulatta) are widely-used as experimental animals in biomedical research and are closely related to other laboratory macaques, such as cynomolgus monkeys (Macaca fascicularis), and to humans, sharing a last common ancestor from about 25 million years ago. Although rhesus monkeys have be...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-11-427

    authors: Kim DS,Huh JW,Kim YH,Park SJ,Lee SR,Chang KT

    更新日期:2010-07-12 00:00:00

  • Combinatorial Conflicting Homozygosity (CCH) analysis enables the rapid identification of shared genomic regions in the presence of multiple phenocopies.

    abstract:BACKGROUND:The ability to identify regions of the genome inherited with a dominant trait in one or more families has become increasingly valuable with the wide availability of high throughput sequencing technology. While a number of methods exist for mapping of homozygous variants segregating with recessive traits in c...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-015-1360-4

    authors: Levine AP,Connor TM,Oygar DD,Neild GH,Segal AW,Maxwell PH,Gale DP

    更新日期:2015-03-10 00:00:00

  • Co-modulated behavior and effects of differentially expressed miRNA in colorectal cancer.

    abstract:BACKGROUND:MicroRNAs (miRNAs) are short noncoding RNAs (approximately 22 nucleotides in length) that play important roles in colorectal cancer (CRC) progression through silencing gene expression. Numerous dysregulated miRNAs simultaneously participate in the process of colon cancer development. However, the detailed me...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-14-S5-S12

    authors: Chen WS,Chen TW,Yang TH,Hu LY,Pan HW,Leung CM,Li SC,Ho MR,Shu CW,Liu PF,Yu SY,Tu YT,Lin WC,Wu TT,Tsai KW

    更新日期:2013-01-01 00:00:00

  • High throughput transcriptome analysis of lipid metabolism in Syrian hamster liver in absence of an annotated genome.

    abstract:BACKGROUND:Whole transcriptome analyses are an essential tool for understanding disease mechanisms. Approaches based on next-generation sequencing provide fast and affordable data but rely on the availability of annotated genomes. However, there are many areas in biomedical research that require non-standard animal mod...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-14-237

    authors: Schmucki R,Berrera M,Küng E,Lee S,Thasler WE,Grüner S,Ebeling M,Certa U

    更新日期:2013-04-10 00:00:00

  • Blood-based epigenetic estimators of chronological age in human adults using DNA methylation data from the Illumina MethylationEPIC array.

    abstract:BACKGROUND:Epigenetic clocks have been recognized for their precise prediction of chronological age, age-related diseases, and all-cause mortality. Existing epigenetic clocks are based on CpGs from the Illumina HumanMethylation450 BeadChip (450 K) which has now been replaced by the latest platform, Illumina Methylation...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-020-07168-8

    authors: Lee Y,Haftorn KL,Denault WRP,Nustad HE,Page CM,Lyle R,Lee-Ødegård S,Moen GH,Prasad RB,Groop LC,Sletner L,Sommer C,Magnus MC,Gjessing HK,Harris JR,Magnus P,Håberg SE,Jugessur A,Bohlin J

    更新日期:2020-10-27 00:00:00

  • Comparative analyses of the variation of the transcriptome and proteome of Rhodobacter sphaeroides throughout growth.

    abstract:BACKGROUND:In natural environments, bacteria must frequently cope with extremely scarce nutrients. Most studies focus on bacterial growth in nutrient replete conditions, while less is known about the stationary phase. Here, we are interested in global gene expression throughout all growth phases, including the adjustme...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-019-5749-3

    authors: Bathke J,Konzer A,Remes B,McIntosh M,Klug G

    更新日期:2019-05-09 00:00:00

  • Application of dissociation curve analysis to radiation hybrid panel marker scoring: generation of a map of river buffalo (B. bubalis) chromosome 20.

    abstract:BACKGROUND:Fluorescence of dyes bound to double-stranded PCR products has been utilized extensively in various real-time quantitative PCR applications, including post-amplification dissociation curve analysis, or differentiation of amplicon length or sequence composition. Despite the current era of whole-genome sequenc...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-9-544

    authors: Kochan KJ,Amaral ME,Agarwala R,Schäffer AA,Riggs PK

    更新日期:2008-11-17 00:00:00

  • Global analysis of the ovarian microRNA transcriptome: implication for miR-2 and miR-133 regulation of oocyte meiosis in the Chinese mitten crab, Eriocheir sinensis (Crustacea:Decapoda).

    abstract:BACKGROUND:MicroRNAs (miRNAs) are small non-coding RNA molecules that downregulate gene expression by base pairing to the 3'-untranslated region (UTR) of target messenger RNAs (mRNAs). Up to now, rare information for the miRNAs is available in decapod crustaceans. Our previous studies showed that many miRNA-binding sit...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-15-547

    authors: Song YN,Shi LL,Liu ZQ,Qiu GF

    更新日期:2014-07-01 00:00:00

  • Genomic comparison of serogroups O159 and O170 with other Vibrio cholerae serogroups.

    abstract:BACKGROUND:Of the hundreds of Vibrio cholerae serogroups, O1 and O139 are the main epidemic-causing ones. Although non-O1/non-O139 serogroups rarely cause epidemics, the possibility exists for strains within them to have pathogenic potential. RESULTS:We selected 25 representative strains within 16 V. cholerae serogrou...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-019-5603-7

    authors: Li Z,Lu X,Wang D,Liang WL,Zhang J,Li J,Xu J,Pang B,Kan B

    更新日期:2019-03-25 00:00:00

  • Multivariate genome wide association and network analysis of subcortical imaging phenotypes in Alzheimer's disease.

    abstract:BACKGROUND:Genome-wide association studies (GWAS) have identified many individual genes associated with brain imaging quantitative traits (QTs) in Alzheimer's disease (AD). However single marker level association discovery may not be able to address the underlying biological interactions with disease mechanism. RESULT...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-020-07282-7

    authors: Meng X,Li J,Zhang Q,Chen F,Bian C,Yao X,Yan J,Xu Z,Risacher SL,Saykin AJ,Liang H,Shen L,Alzheimer’s Disease Neuroimaging Initiative.

    更新日期:2020-12-29 00:00:00

  • Systems toxicology identifies mechanistic impacts of 2-amino-4,6-dinitrotoluene (2A-DNT) exposure in Northern Bobwhite.

    abstract:BACKGROUND:A systems toxicology investigation comparing and integrating transcriptomic and proteomic results was conducted to develop holistic effects characterizations for the wildlife bird model, Northern bobwhite (Colinus virginianus) dosed with the explosives degradation product 2-amino-4,6-dinitrotoluene (2A-DNT)....

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-015-1798-4

    authors: Gust KA,Nanduri B,Rawat A,Wilbanks MS,Ang CY,Johnson DR,Pendarvis K,Chen X,Quinn MJ Jr,Johnson MS,Burgess SC,Perkins EJ

    更新日期:2015-08-07 00:00:00

  • Genome-wide transcriptome and functional analysis of two contrasting genotypes reveals key genes for cadmium tolerance in barley.

    abstract:BACKGROUND:Cadmium (Cd) is a severe detrimental environmental pollutant. To adapt to Cd-induced deleterious effects, plants have evolved sophisticated defence mechanisms. In this study, a genome-wide transcriptome analysis was performed to identify the mechanisms of Cd tolerance using two barley genotypes with distinct...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-15-611

    authors: Cao F,Chen F,Sun H,Zhang G,Chen ZH,Wu F

    更新日期:2014-07-19 00:00:00

  • De novo assembly of middle-sized genome using MinION and Illumina sequencers.

    abstract:BACKGROUND:The plastid acquisition by secondary endosymbiosis is a driving force for the algal evolution, and the comparative genomics was required to examine the genomic change of symbiont. Therefore, we established a pipeline of a de novo assembly of middle-sized genomes at a low cost and with high quality using long...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-018-5067-1

    authors: Minei R,Hoshina R,Ogura A

    更新日期:2018-09-24 00:00:00

  • Concurrent host-pathogen gene expression in the lungs of pigs challenged with Actinobacillus pleuropneumoniae.

    abstract:BACKGROUND:Actinobacillus pleuropneumoniae causes pleuropneumonia in pigs, a disease which is associated with high morbidity and mortality, as well as impaired animal welfare. To obtain in-depth understanding of this infection, the interplay between virulence factors of the pathogen and defense mechanisms of the porcin...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-015-1557-6

    authors: Brogaard L,Klitgaard K,Heegaard PM,Hansen MS,Jensen TK,Skovgaard K

    更新日期:2015-05-28 00:00:00

  • Are personalities genetically determined? Inferences from subsocial spiders.

    abstract:BACKGROUND:Recent research has revealed that polymorphic behavioral strategies shape intra-and interspecific interactions and contribute to fitness in many animal species. A better understanding of the proximate mechanisms underlying these behavioral syndromes will enhance our grasp this phenomenon. Spiders in the genu...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-019-6172-5

    authors: Purcell J,Pruitt JN

    更新日期:2019-11-22 00:00:00

  • Tests for differential gene expression using weights in oligonucleotide microarray experiments.

    abstract:BACKGROUND:Microarray data analysts commonly filter out genes based on a number of ad hoc criteria prior to any high-level statistical analysis. Such ad hoc approaches could lead to conflicting conclusions with no clear guidance as to which method is most likely to be reproducible. Furthermore, the number of tests perf...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-7-33

    authors: Hu P,Beyene J,Greenwood CM

    更新日期:2006-02-22 00:00:00

  • Comparative genomics of the Bifidobacterium breve taxon.

    abstract:BACKGROUND:Bifidobacteria are commonly found as part of the microbiota of the gastrointestinal tract (GIT) of a broad range of hosts, where their presence is positively correlated with the host's health status. In this study, we assessed the genomes of thirteen representatives of Bifidobacterium breve, which is not onl...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-15-170

    authors: Bottacini F,O'Connell Motherway M,Kuczynski J,O'Connell KJ,Serafini F,Duranti S,Milani C,Turroni F,Lugli GA,Zomer A,Zhurina D,Riedel C,Ventura M,van Sinderen D

    更新日期:2014-03-01 00:00:00

  • Germline mutation within COL2A1 associated with lethal chondrodysplasia in a polled Holstein family.

    abstract:BACKGROUND:The bulldog calf syndrome is a lethal form of the inherited congenital chondrodysplasias. Among the progeny of the polled Holstein bull Energy P cases of lethal chondrodysplasia were observed. Pedigrees of the cases and the frequency of 3/8 cases among the offspring of Energy P at our teaching and experiment...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-017-4153-0

    authors: Reinartz S,Mohwinkel H,Sürie C,Hellige M,Feige K,Eikelberg D,Beineke A,Metzger J,Distl O

    更新日期:2017-10-10 00:00:00

  • Genetic diversity among cultivated beets (Beta vulgaris) assessed via population-based whole genome sequences.

    abstract:BACKGROUND:Diversification on the basis of utilization is a hallmark of Beta vulgaris (beet), as well as other crop species. Often, crop improvement and management activities are segregated by crop type, thus preserving unique genome diversity and organization. Full interfertility is typically retained in crosses betwe...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-020-6451-1

    authors: Galewski P,McGrath JM

    更新日期:2020-03-02 00:00:00

  • Replicate exome-sequencing in a multiple-generation family: improved interpretation of next-generation sequencing data.

    abstract:BACKGROUND:Whole-exome sequencing (WES) is rapidly evolving into a tool of choice for rapid, and inexpensive identification of molecular genetic lesions within targeted regions of the human genome. While biases in WES coverage of nucleotides in targeted regions are recognized, it is not well understood how repetition o...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-015-2107-y

    authors: Cherukuri PF,Maduro V,Fuentes-Fajardo KV,Lam K,NISC Comparative Sequencing Program.,Adams DR,Tifft CJ,Mullikin JC,Gahl WA,Boerkoel CF

    更新日期:2015-11-25 00:00:00

  • Comparative analysis of protein-protein interactions in the defense response of rice and wheat.

    abstract:BACKGROUND:Despite the importance of wheat as a major staple crop and the negative impact of diseases on its production worldwide, the genetic mechanisms and gene interactions involved in the resistance response in wheat are still poorly understood. The complete sequence of the rice genome has provided an extremely use...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-14-166

    authors: Cantu D,Yang B,Ruan R,Li K,Menzo V,Fu D,Chern M,Ronald PC,Dubcovsky J

    更新日期:2013-03-12 00:00:00

  • Microarray profiling for differential gene expression in PMSG-hCG stimulated preovulatory ovarian follicles of Chinese Taihu and Large White sows.

    abstract:BACKGROUND:The Chinese Taihu is one of the most prolific pig breeds in the world, which farrows at least five more piglets per litter than Western pig breeds partly due to a greater ovulation rate. Variation of ovulation rate maybe associated with the differences in the transcriptome of Chinese Taihu and Large White ov...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-12-111

    authors: Sun X,Mei S,Tao H,Wang G,Su L,Jiang S,Deng C,Xiong Y,Li F

    更新日期:2011-02-16 00:00:00

  • Biclustering of transcriptome sequencing data reveals human tissue-specific circular RNAs.

    abstract:BACKGROUND:Emerging evidence has been experimentally confirmed the tissue-specific expression of circRNAs (circRNAs). Global identification of human tissue-specific circRNAs is crucial for the functionality study, which facilitates the discovery of circRNAs for potential diagnostic biomarkers. RESULTS:In this study, c...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-017-4335-9

    authors: Liu YC,Chiu YJ,Li JR,Sun CH,Liu CC,Huang HD

    更新日期:2018-01-19 00:00:00

  • Comparative genomics of Eucalyptus and Corymbia reveals low rates of genome structural rearrangement.

    abstract:BACKGROUND:Previous studies suggest genome structure is largely conserved between Eucalyptus species. However, it is unknown if this conservation extends to more divergent eucalypt taxa. We performed comparative genomics between the eucalypt genera Eucalyptus and Corymbia. Our results will facilitate transfer of genomi...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-017-3782-7

    authors: Butler JB,Vaillancourt RE,Potts BM,Lee DJ,King GJ,Baten A,Shepherd M,Freeman JS

    更新日期:2017-05-22 00:00:00

  • Tracking the best reference genes for RT-qPCR data normalization in filamentous fungi.

    abstract:BACKGROUND:A critical step in the RT-qPCR workflow for studying gene expression is data normalization, one of the strategies being the use of reference genes. This study aimed to identify and validate a selection of reference genes for relative quantification in Talaromyces versatilis, a relevant industrial filamentous...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-015-1224-y

    authors: Llanos A,François JM,Parrou JL

    更新日期:2015-02-14 00:00:00

  • Genome-wide characterization of simple sequence repeats in cucumber (Cucumis sativus L.).

    abstract:BACKGROUND:Cucumber, Cucumis sativus L. is an important vegetable crop worldwide. Until very recently, cucumber genetic and genomic resources, especially molecular markers, have been very limited, impeding progress of cucumber breeding efforts. Microsatellites are short tandemly repeated DNA sequences, which are freque...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-11-569

    authors: Cavagnaro PF,Senalik DA,Yang L,Simon PW,Harkins TT,Kodira CD,Huang S,Weng Y

    更新日期:2010-10-15 00:00:00