Comparing copy-number profiles under multi-copy amplifications and deletions.

Abstract:

BACKGROUND:During cancer progression, malignant cells accumulate somatic mutations that can lead to genetic aberrations. In particular, evolutionary events akin to segmental duplications or deletions can alter the copy-number profile (CNP) of a set of genes in a genome. Our aim is to compute the evolutionary distance between two cells for which only CNPs are known. This asks for the minimum number of segmental amplifications and deletions to turn one CNP into another. This was recently formalized into a model where each event is assumed to alter a copy-number by 1 or -1, even though these events can affect large portions of a chromosome. RESULTS:We propose a general cost framework where an event can modify the copy-number of a gene by larger amounts. We show that any cost scheme that allows segmental deletions of arbitrary length makes computing the distance strongly NP-hard. We then devise a factor 2 approximation algorithm for the problem when copy-numbers are non-zero and provide an implementation called cnp2cnp. We evaluate our approach experimentally by reconstructing simulated cancer phylogenies from the pairwise distances inferred by cnp2cnp and compare it against two other alternatives, namely the MEDICC distance and the Euclidean distance. CONCLUSIONS:The experimental results show that our distance yields more accurate phylogenies on average than these alternatives if the given CNPs are error-free, but that the MEDICC distance is slightly more robust against error in the data. In all cases, our experiments show that either our approach or the MEDICC approach should preferred over the Euclidean distance.

journal_name

BMC Genomics

journal_title

BMC genomics

authors

Cordonnier G,Lafond M

doi

10.1186/s12864-020-6611-3

subject

Has Abstract

pub_date

2020-04-16 00:00:00

pages

198

issue

Suppl 2

issn

1471-2164

pii

10.1186/s12864-020-6611-3

journal_volume

21

pub_type

杂志文章
  • Transcriptomic and metabolomic profiling of chicken adipose tissue in response to insulin neutralization and fasting.

    abstract:BACKGROUND:Domestic broiler chickens rapidly accumulate adipose tissue due to intensive genetic selection for rapid growth and are naturally hyperglycemic and insulin resistant, making them an attractive addition to the suite of rodent models used for studies of obesity and type 2 diabetes in humans. Furthermore, chick...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-13-441

    authors: Ji B,Ernest B,Gooding JR,Das S,Saxton AM,Simon J,Dupont J,Métayer-Coustard S,Campagna SR,Voy BH

    更新日期:2012-08-31 00:00:00

  • Multiple displacement amplification for complex mixtures of DNA fragments.

    abstract:BACKGROUND:A fundamental requirement for genomic studies is the availability of genetic material of good quality and quantity. The desired quantity and quality are often hard to obtain when target DNA is composed of complex mixtures of relatively short DNA fragments. Here, we sought to develop a method to representativ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-9-415

    authors: Shoaib M,Baconnais S,Mechold U,Le Cam E,Lipinski M,Ogryzko V

    更新日期:2008-09-15 00:00:00

  • A deconvolution method and its application in analyzing the cellular fractions in acute myeloid leukemia samples.

    abstract:BACKGROUND:The identification of cell type-specific genes (markers) is an essential step for the deconvolution of the cellular fractions, primarily, from the gene expression data of a bulk sample. However, the genes with significant changes identified by pair-wise comparisons cannot indeed represent the specificity of ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-020-06888-1

    authors: Li H,Sharma A,Ming W,Sun X,Liu H

    更新日期:2020-09-23 00:00:00

  • Altered patterns of gene duplication and differential gene gain and loss in fungal pathogens.

    abstract:BACKGROUND:Duplication, followed by fixation or random loss of novel genes, contributes to genome evolution. Particular outcomes of duplication events are possibly associated with pathogenic life histories in fungi. To date, differential gene gain and loss have not been studied at genomic scales in fungal pathogens, de...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-9-147

    authors: Powell AJ,Conant GC,Brown DE,Carbone I,Dean RA

    更新日期:2008-03-28 00:00:00

  • A phenomics-based approach for the detection and interpretation of shared genetic influences on 29 biochemical indices in southern Chinese men.

    abstract:BACKGROUND:Phenomics provides new technologies and platforms as a systematic phenome-genome approach. However, few studies have reported on the systematic mining of shared genetics among clinical biochemical indices based on phenomics methods, especially in China. This study aimed to apply phenomics to systematically e...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-019-6363-0

    authors: Hu Y,Tan A,Yu L,Hou C,Kuang H,Wu Q,Su J,Zhou Q,Zhu Y,Zhang C,Wei W,Li L,Li W,Huang Y,Huang H,Xie X,Lu T,Zhang H,Yang X,Gao Y,Li T,Jiang Y,Mo Z

    更新日期:2019-12-16 00:00:00

  • Whole genome and exome sequencing of monozygotic twins discordant for Crohn's disease.

    abstract:BACKGROUND:Crohn's disease (CD) is an inflammatory bowel disease caused by genetic and environmental factors. More than 160 susceptibility loci have been identified for IBD, yet a large part of the genetic variance remains unexplained. Recent studies have demonstrated genetic differences between monozygotic twins, who ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-15-564

    authors: Petersen BS,Spehlmann ME,Raedler A,Stade B,Thomsen I,Rabionet R,Rosenstiel P,Schreiber S,Franke A

    更新日期:2014-07-05 00:00:00

  • De novo sequencing and transcriptome analysis of the desert shrub, Ammopiptanthus mongolicus, during cold acclimation using Illumina/Solexa.

    abstract:BACKGROUND:Ammopiptanthus mongolicus (Maxim. ex Kom.) Cheng f., an evergreen broadleaf legume shrub, is distributed in Mid-Asia where the temperature can be as low as -30°C during the winter. Although A. mongolicus is an ideal model to study the plant response to cold stress, insufficient genomic resources for this spe...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-14-488

    authors: Pang T,Ye CY,Xia X,Yin W

    更新日期:2013-07-18 00:00:00

  • Gene silencing pathways found in the green alga Volvox carteri reveal insights into evolution and origins of small RNA systems in plants.

    abstract:BACKGROUND:Volvox carteri (V. carteri) is a multicellular green alga used as model system for the evolution of multicellularity. So far, the contribution of small RNA pathways to these phenomena is not understood. Thus, we have sequenced V. carteri Argonaute 3 (VcAGO3)-associated small RNAs from different developmental...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-016-3202-4

    authors: Dueck A,Evers M,Henz SR,Unger K,Eichner N,Merkl R,Berezikov E,Engelmann JC,Weigel D,Wenzl S,Meister G

    更新日期:2016-11-02 00:00:00

  • An evaluation of the PacBio RS platform for sequencing and de novo assembly of a chloroplast genome.

    abstract:BACKGROUND:Second generation sequencing has permitted detailed sequence characterisation at the whole genome level of a growing number of non-model organisms, but the data produced have short read-lengths and biased genome coverage leading to fragmented genome assemblies. The PacBio RS long-read sequencing platform off...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-14-670

    authors: Ferrarini M,Moretto M,Ward JA,Šurbanovski N,Stevanović V,Giongo L,Viola R,Cavalieri D,Velasco R,Cestaro A,Sargent DJ

    更新日期:2013-10-01 00:00:00

  • An empirical comparison of population genetic analyses using microsatellite and SNP data for a species of conservation concern.

    abstract:BACKGROUND:Use of genomic tools to characterize wildlife populations has increased in recent years. In the past, genetic characterization has been accomplished with more traditional genetic tools (e.g., microsatellites). The explosion of genomic methods and the subsequent creation of large SNP datasets has led to the p...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-020-06783-9

    authors: Zimmerman SJ,Aldridge CL,Oyler-McCance SJ

    更新日期:2020-06-01 00:00:00

  • A high density genetic map and QTL for agronomic and yield traits in Foxtail millet [Setaria italica (L.) P. Beauv].

    abstract:BACKGROUND:Foxtail millet [Setaria italica (L.) P. Beauv.], a crop of historical importance in China, has been adopted as a model crop for studying C-4 photosynthesis, stress biology and biofuel traits. Construction of a high density genetic map and identification of stable quantitative trait loci (QTL) lay the foundat...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-016-2628-z

    authors: Fang X,Dong K,Wang X,Liu T,He J,Ren R,Zhang L,Liu R,Liu X,Li M,Huang M,Zhang Z,Yang T

    更新日期:2016-05-04 00:00:00

  • A multi-treatment experimental system to examine photosynthetic differentiation in the maize leaf.

    abstract:BACKGROUND:The establishment of C4 photosynthesis in maize is associated with differential accumulation of gene transcripts and proteins between bundle sheath and mesophyll photosynthetic cell types. We have physically separated photosynthetic cell types in the leaf blade to characterize differences in gene expression ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-8-12

    authors: Sawers RJ,Liu P,Anufrikova K,Hwang JT,Brutnell TP

    更新日期:2007-01-09 00:00:00

  • RNA-Seq quantification of the human small airway epithelium transcriptome.

    abstract:BACKGROUND:The small airway epithelium (SAE), the cell population that covers the human airway surface from the 6th generation of airway branching to the alveoli, is the major site of lung disease caused by smoking. The focus of this study is to provide quantitative assessment of the SAE transcriptome in the resting st...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-13-82

    authors: Hackett NR,Butler MW,Shaykhiev R,Salit J,Omberg L,Rodriguez-Flores JL,Mezey JG,Strulovici-Barel Y,Wang G,Didon L,Crystal RG

    更新日期:2012-02-29 00:00:00

  • Revealing common disease mechanisms shared by tumors of different tissues of origin through semantic representation of genomic alterations and topic modeling.

    abstract:BACKGROUND:Cancer is a complex disease driven by somatic genomic alterations (SGAs) that perturb signaling pathways and consequently cellular function. Identifying patterns of pathway perturbations would provide insights into common disease mechanisms shared among tumors, which is important for guiding treatment and pr...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-017-3494-z

    authors: Chen V,Paisley J,Lu X

    更新日期:2017-03-14 00:00:00

  • Genetic diversity of male and female Chinese bayberry (Myrica rubra) populations and identification of sex-associated markers.

    abstract:BACKGROUND:Chinese bayberry (Myrica rubra Sieb. & Zucc.) is an important subtropical evergreen fruit tree in southern China. Generally dioecious, the female plants are cultivated for fruit and have been studied extensively, but male plants have received very little attention. Knowledge of males may have a major impact ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-015-1602-5

    authors: Jia HM,Jiao Y,Wang GY,Li YH,Jia HJ,Wu HX,Chai CY,Dong X,Guo Y,Zhang L,Gao QK,Chen W,Song LJ,van de Weg E,Gao ZS

    更新日期:2015-05-19 00:00:00

  • Structured RNAs and synteny regions in the pig genome.

    abstract:BACKGROUND:Annotating mammalian genomes for noncoding RNAs (ncRNAs) is nontrivial since far from all ncRNAs are known and the computational models are resource demanding. Currently, the human genome holds the best mammalian ncRNA annotation, a result of numerous efforts by several groups. However, a more direct strateg...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-15-459

    authors: Anthon C,Tafer H,Havgaard JH,Thomsen B,Hedegaard J,Seemann SE,Pundhir S,Kehr S,Bartschat S,Nielsen M,Nielsen RO,Fredholm M,Stadler PF,Gorodkin J

    更新日期:2014-06-10 00:00:00

  • Analysis of nucleosome positioning determined by DNA helix curvature in the human genome.

    abstract:BACKGROUND:Nucleosome positioning has an important role in gene regulation. However, dynamic positioning in vivo casts doubt on the reliability of predictions based on DNA sequence characteristics. What role does sequence-dependent positioning play? In this paper, using a curvature profile model, nucleosomes are predic...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-12-72

    authors: Liu H,Duan X,Yu S,Sun X

    更新日期:2011-01-27 00:00:00

  • Comparative analyses of genotype dependent expressed sequence tags and stress-responsive transcriptome of chickpea wilt illustrate predicted and unexpected genes and novel regulators of plant immunity.

    abstract:BACKGROUND:The ultimate phenome of any organism is modulated by regulated transcription of many genes. Characterization of genetic makeup is thus crucial for understanding the molecular basis of phenotypic diversity, evolution and response to intra- and extra-cellular stimuli. Chickpea is the world's third most importa...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-10-415

    authors: Ashraf N,Ghai D,Barman P,Basu S,Gangisetty N,Mandal MK,Chakraborty N,Datta A,Chakraborty S

    更新日期:2009-09-05 00:00:00

  • BMP signaling components in embryonic transcriptomes of the hover fly Episyrphus balteatus (Syrphidae).

    abstract:BACKGROUND:In animals, signaling of Bone Morphogenetic Proteins (BMPs) is essential for dorsoventral (DV) patterning of the embryo, but how BMP signaling evolved with changes in embryonic DV differentiation is largely unclear. Based on the extensive knowledge of BMP signaling in Drosophila melanogaster, the morphologic...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-12-278

    authors: Lemke S,Antonopoulos DA,Meyer F,Domanus MH,Schmidt-Ott U

    更新日期:2011-05-31 00:00:00

  • DEBrowser: interactive differential expression analysis and visualization tool for count data.

    abstract:BACKGROUND:Sequencing data has become a standard measure of diverse cellular activities. For example, gene expression is accurately measured by RNA sequencing (RNA-Seq) libraries, protein-DNA interactions are captured by chromatin immunoprecipitation sequencing (ChIP-Seq), protein-RNA interactions by crosslinking immun...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-018-5362-x

    authors: Kucukural A,Yukselen O,Ozata DM,Moore MJ,Garber M

    更新日期:2019-01-05 00:00:00

  • Improving the performance of true single molecule sequencing for ancient DNA.

    abstract:BACKGROUND:Second-generation sequencing technologies have revolutionized our ability to recover genetic information from the past, allowing the characterization of the first complete genomes from past individuals and extinct species. Recently, third generation Helicos sequencing platforms, which perform true Single-Mol...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-13-177

    authors: Ginolhac A,Vilstrup J,Stenderup J,Rasmussen M,Stiller M,Shapiro B,Zazula G,Froese D,Steinmann KE,Thompson JF,Al-Rasheid KA,Gilbert TM,Willerslev E,Orlando L

    更新日期:2012-05-10 00:00:00

  • Characterization of a novel chicken muscle disorder through differential gene expression and pathway analysis using RNA-sequencing.

    abstract:BACKGROUND:Improvements in poultry production within the past 50 years have led to increased muscle yield and growth rate, which may be contributing to an increased rate and development of new muscle disorders in chickens. Previously reported muscle disorders and conditions are generally associated with poor meat quali...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-015-1623-0

    authors: Mutryn MF,Brannick EM,Fu W,Lee WR,Abasht B

    更新日期:2015-05-21 00:00:00

  • Chronic wounds alter the proteome profile in skin mucus of farmed gilthead seabream.

    abstract:BACKGROUND:Skin and its mucus are known to be the first barrier of defence against any external stressors. In fish, skin wounds frequently appear as a result of intensive culture and also some diseases have skin ulcers as external clinical signs. However, there is no information about the changes produced by the wounds...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-017-4349-3

    authors: Cordero H,Brinchmann MF,Cuesta A,Esteban MA

    更新日期:2017-12-02 00:00:00

  • Extensive structural variations between mitochondrial genomes of CMS and normal peppers (Capsicum annuum L.) revealed by complete nucleotide sequencing.

    abstract:BACKGROUND:Cytoplasmic male sterility (CMS) is an inability to produce functional pollen that is caused by mutation of the mitochondrial genome. Comparative analyses of mitochondrial genomes of lines with and without CMS in several species have revealed structural differences between genomes, including extensive rearra...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-15-561

    authors: Jo YD,Choi Y,Kim DH,Kim BD,Kang BC

    更新日期:2014-07-04 00:00:00

  • Transcriptional profiling of putative human epithelial stem cells.

    abstract:BACKGROUND:Human interfollicular epidermis is sustained by the proliferation of stem cells and their progeny, transient amplifying cells. Molecular characterization of these two cell populations is essential for better understanding of self renewal, differentiation and mechanisms of skin pathogenesis. The purpose of th...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-9-359

    authors: Koçer SS,Djurić PM,Bugallo MF,Simon SR,Matic M

    更新日期:2008-07-30 00:00:00

  • Markedly different genome arrangements between serotype a strains and serotypes b or c strains of Aggregatibacter actinomycetemcomitans.

    abstract:BACKGROUND:Bacterial phenotype may be profoundly affected by the physical arrangement of their genes in the genome. The Gram-negative species Aggregatibacter actinomycetemcomitans is a major etiologic agent of human periodontitis. Individual clonal types of A. actinomycetemcomitans may exhibit variable virulence and di...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-11-489

    authors: Kittichotirat W,Bumgarner R,Chen C

    更新日期:2010-09-08 00:00:00

  • Co-expression network analysis of duplicate genes in maize (Zea mays L.) reveals no subgenome bias.

    abstract:BACKGROUND:Gene duplication is prevalent in many species and can result in coding and regulatory divergence. Gene duplications can be classified as whole genome duplication (WGD), tandem and inserted (non-syntenic). In maize, WGD resulted in the subgenomes maize1 and maize2, of which maize1 is considered the dominant s...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-016-3194-0

    authors: Li L,Briskine R,Schaefer R,Schnable PS,Myers CL,Flagel LE,Springer NM,Muehlbauer GJ

    更新日期:2016-11-04 00:00:00

  • Fine mapping and RNA-Seq unravels candidate genes for a major QTL controlling multiple fiber quality traits at the T1 region in upland cotton.

    abstract:BACKGROUND:Improving fiber quality is a major challenge in cotton breeding, since the molecular basis of fiber quality traits is poorly understood. Fine mapping and candidate gene prediction of quantitative trait loci (QTL) controlling cotton fiber quality traits can help to elucidate the molecular basis of fiber quali...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-016-2605-6

    authors: Liu D,Zhang J,Liu X,Wang W,Liu D,Teng Z,Fang X,Tan Z,Tang S,Yang J,Zhong J,Zhang Z

    更新日期:2016-04-19 00:00:00

  • Identification of microRNA-mRNA modules using microarray data.

    abstract:BACKGROUND:MicroRNAs (miRNAs) are post-transcriptional regulators of mRNA expression and are involved in numerous cellular processes. Consequently, miRNAs are an important component of gene regulatory networks and an improved understanding of miRNAs will further our knowledge of these networks. There is a many-to-many ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-12-138

    authors: Jayaswal V,Lutherborrow M,Ma DD,Yang YH

    更新日期:2011-03-06 00:00:00

  • How to evaluate performance of prediction methods? Measures and their interpretation in variation effect analysis.

    abstract:BACKGROUND:Prediction methods are increasingly used in biosciences to forecast diverse features and characteristics. Binary two-state classifiers are the most common applications. They are usually based on machine learning approaches. For the end user it is often problematic to evaluate the true performance and applica...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-13-S4-S2

    authors: Vihinen M

    更新日期:2012-06-18 00:00:00