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 consanguineous families, dominant conditions are conventionally analysed by linkage analysis, which requires computationally demanding haplotype reconstruction from marker genotypes and, even using advanced parallel approximation implementations, can take substantial time, particularly for large pedigrees. In addition, linkage analysis lacks sensitivity in the presence of phenocopies (individuals sharing the trait but not the genetic variant responsible). Combinatorial Conflicting Homozygosity (CCH) analysis uses high density biallelic single nucleotide polymorphism (SNP) marker genotypes to identify genetic loci within which consecutive markers are not homozygous for different alleles. This allows inference of identical by descent (IBD) inheritance of a haplotype among a set or subsets of related or unrelated individuals. RESULTS:A single genome-wide conflicting homozygosity analysis takes <3 seconds and parallelisation permits multiple combinations of subsets of individuals to be analysed quickly. Analysis of unrelated individuals demonstrated that in the absence of IBD inheritance, runs of no CH exceeding 4 cM are not observed. At this threshold, CCH is >97% sensitive and specific for IBD regions within a pedigree exceeding this length and was able to identify the locus responsible for a dominantly inherited kidney disease in a Turkish Cypriot family in which six out 17 affected individuals were phenocopies. It also revealed shared ancestry at the disease-linked locus among affected individuals from two different Cypriot populations. CONCLUSIONS:CCH does not require computationally demanding haplotype reconstruction and can detect regions of shared inheritance of a haplotype among subsets of related or unrelated individuals directly from SNP genotype data. In contrast to parametric linkage allowing for phenocopies, CCH directly provides the exact number and identity of individuals sharing each locus. CCH can also identify regions of shared ancestry among ostensibly unrelated individuals who share a trait. CCH is implemented in Python and is freely available (as source code) from http://sourceforge.net/projects/cchsnp/ .

journal_name

BMC Genomics

journal_title

BMC genomics

authors

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

doi

10.1186/s12864-015-1360-4

subject

Has Abstract

pub_date

2015-03-10 00:00:00

pages

163

issn

1471-2164

pii

10.1186/s12864-015-1360-4

journal_volume

16

pub_type

杂志文章
  • Analysis of the dermatophyte Trichophyton rubrum expressed sequence tags.

    abstract:BACKGROUND:Dermatophytes are the primary causative agent of dermatophytoses, a disease that affects billions of individuals worldwide. Trichophyton rubrum is the most common of the superficial fungi. Although T. rubrum is a recognized pathogen for humans, little is known about how its transcriptional pattern is related...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-7-255

    authors: Wang L,Ma L,Leng W,Liu T,Yu L,Yang J,Yang L,Zhang W,Zhang Q,Dong J,Xue Y,Zhu Y,Xu X,Wan Z,Ding G,Yu F,Tu K,Li Y,Li R,Shen Y,Jin Q

    更新日期:2006-10-11 00:00:00

  • Automatic B cell lymphoma detection using flow cytometry data.

    abstract:BACKGROUND:Flow cytometry has been widely used for the diagnosis of various hematopoietic diseases. Although there have been advances in the number of biomarkers that can be analyzed simultaneously and technologies that enable fast performance, the diagnostic data are still interpreted by a manual gating strategy. The ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-14-S7-S1

    authors: Shih MC,Huang SH,Donohue R,Chang CC,Zu Y

    更新日期:2013-01-01 00:00:00

  • Linkage disequilibrium and genome-wide association analysis for anthocyanin pigmentation and fruit color in eggplant.

    abstract:BACKGROUND:The genome-wide association (GWA) approach represents an alternative to biparental linkage mapping for determining the genetic basis of trait variation. Both approaches rely on recombination to re-arrange the genome, and seek to establish correlations between phenotype and genotype. The major advantages of G...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-15-896

    authors: Cericola F,Portis E,Lanteri S,Toppino L,Barchi L,Acciarri N,Pulcini L,Sala T,Rotino GL

    更新日期:2014-10-14 00:00:00

  • Characterization of familial breast cancer in Saudi Arabia.

    abstract:BACKGROUND:The contribution of genetic factors to the development of breast cancer in the admixed and consanguineous population of the western region of Saudi Arabia is thought to be significant as the disease is early onset. The current protocols of continuous clinical follow-up of relatives of such patients are costl...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-16-S1-S3

    authors: Merdad A,Gari MA,Hussein S,Al-Khayat S,Tashkandi H,Al-Maghrabi J,Al-Thubaiti F,Hussein IR,Koumosani T,Shaer N,Chaudhary AG,Abuzenadah AM,Al-Qahtani MH,Dallol A

    更新日期:2015-01-01 00:00:00

  • The biorepository portal toolkit: an honest brokered, modular service oriented software tool set for biospecimen-driven translational research.

    abstract:BACKGROUND:High throughput molecular sequencing and increased biospecimen variety have introduced significant informatics challenges for research biorepository infrastructures. We applied a modular system integration approach to develop an operational biorepository management system. This method enables aggregation of ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-016-2797-9

    authors: Felmeister AS,Masino AJ,Rivera TJ,Resnick AC,Pennington JW

    更新日期:2016-08-18 00:00:00

  • Selective inhibition of yeast regulons by daunorubicin: a transcriptome-wide analysis.

    abstract:BACKGROUND:The antitumor drug daunorubicin exerts some of its cytotoxic effects by binding to DNA and inhibiting the transcription of different genes. We analysed this effect in vivo at the transcriptome level using the budding yeast Saccharomyces cerevisiae as a model and sublethal (IC40) concentrations of the drug to...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-9-358

    authors: Rojas M,Casado M,Portugal J,Piña B

    更新日期:2008-07-30 00:00:00

  • An ancestry informative marker panel design for individual ancestry estimation of Hispanic population using whole exome sequencing data.

    abstract:BACKGROUND:Europeans and American Indians were major genetic ancestry of Hispanics in the U.S. These ancestral groups have markedly different incidence rates and outcomes in many types of cancers. Therefore, the genetic admixture may cause biased genetic association study with cancer susceptibility variants specificall...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-019-6333-6

    authors: Wang LJ,Zhang CW,Su SC,Chen HH,Chiu YC,Lai Z,Bouamar H,Ramirez AG,Cigarroa FG,Sun LZ,Chen Y

    更新日期:2019-12-30 00:00:00

  • Autocorrelation analysis reveals widespread spatial biases in microarray experiments.

    abstract:BACKGROUND:DNA microarrays provide the ability to interrogate multiple genes in a single experiment and have revolutionized genomic research. However, the microarray technology suffers from various forms of biases and relatively low reproducibility. A particular source of false data has been described, in which non-ran...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-8-164

    authors: Koren A,Tirosh I,Barkai N

    更新日期:2007-06-12 00:00:00

  • Comprehensive analysis of the Corynebacterium glutamicum transcriptome using an improved RNAseq technique.

    abstract:BACKGROUND:The use of RNAseq to resolve the transcriptional organization of an organism was established in recent years and also showed the complexity and dynamics of bacterial transcriptomes. The aim of this study was to comprehensively investigate the transcriptome of the industrially relevant amino acid producer and...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-14-888

    authors: Pfeifer-Sancar K,Mentz A,Rückert C,Kalinowski J

    更新日期:2013-12-17 00:00:00

  • Construction and verification of the transcriptional regulatory response network of Streptococcus mutans upon treatment with the biofilm inhibitor carolacton.

    abstract:BACKGROUND:Carolacton is a newly identified secondary metabolite causing altered cell morphology and death of Streptococcus mutans biofilm cells. To unravel key regulators mediating these effects, the transcriptional regulatory response network of S. mutans biofilms upon carolacton treatment was constructed and analyze...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-15-362

    authors: Sudhakar P,Reck M,Wang W,He FQ,Wagner-Döbler I,Zeng AP

    更新日期:2014-05-12 00:00:00

  • A genomics-based systems approach towards drug repositioning for rheumatoid arthritis.

    abstract:BACKGROUND:Rheumatoid arthritis (RA) is a chronic autoimmune disease characterized by inflammation and destruction of synovial joints. RA affects up to 1 % of the population worldwide. Currently, there are no drugs that can cure RA or achieve sustained remission. The unknown cause of the disease represents a significan...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-016-2910-0

    authors: Xu R,Wang Q

    更新日期:2016-08-22 00:00:00

  • Multi-species data integration and gene ranking enrich significant results in an alcoholism genome-wide association study.

    abstract:BACKGROUND:A variety of species and experimental designs have been used to study genetic influences on alcohol dependence, ethanol response, and related traits. Integration of these heterogeneous data can be used to produce a ranked target gene list for additional investigation. RESULTS:In this study, we performed a u...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-13-S8-S16

    authors: Zhao Z,Guo AY,van den Oord EJ,Aliev F,Jia P,Edenberg HJ,Riley BP,Dick DM,Bettinger JC,Davies AG,Grotewiel MS,Schuckit MA,Agrawal A,Kramer J,Nurnberger JI Jr,Kendler KS,Webb BT,Miles MF

    更新日期:2012-01-01 00:00:00

  • Genome-wide transcriptomic analysis of a superior biomass-degrading strain of A. fumigatus revealed active lignocellulose-degrading genes.

    abstract:BACKGROUND:Various saprotrophic microorganisms, especially filamentous fungi, can efficiently degrade lignocellulose that is one of the most abundant natural materials on earth. It consists of complex carbohydrates and aromatic polymers found in the plant cell wall and thus in plant debris. Aspergillus fumigatus Z5 was...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-015-1658-2

    authors: Miao Y,Liu D,Li G,Li P,Xu Y,Shen Q,Zhang R

    更新日期:2015-06-16 00:00:00

  • Reverse transcriptional profiling: non-correspondence of transcript level variation and proximal promoter polymorphism.

    abstract:BACKGROUND:Variation in gene expression between two Drosophila melanogaster strains, as revealed by transcriptional profiling, seldom corresponded to variation in proximal promoter sequence for 34 genes analyzed. Two sets of protein-coding genes were selected from pre-existing microarray data: (1) those whose expressio...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-6-110

    authors: Brown RP,Feder ME

    更新日期:2005-08-17 00:00:00

  • ESAP plus: a web-based server for EST-SSR marker development.

    abstract:BACKGROUND:Simple sequence repeats (SSRs) have become widely used as molecular markers in plant genetic studies due to their abundance, high allelic variation at each locus and simplicity to analyze using conventional PCR amplification. To study plants with unknown genome sequence, SSR markers from Expressed Sequence T...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-016-3328-4

    authors: Ponyared P,Ponsawat J,Tongsima S,Seresangtakul P,Akkasaeng C,Tantisuwichwong N

    更新日期:2016-12-22 00:00:00

  • Phenotypic and genomic comparison of Photorhabdus luminescens subsp. laumondii TT01 and a widely used rifampicin-resistant Photorhabdus luminescens laboratory strain.

    abstract:BACKGROUND:Photorhabdus luminescens is an enteric bacterium, which lives in mutualistic association with soil nematodes and is highly pathogenic for a broad spectrum of insects. A complete genome sequence for the type strain P. luminescens subsp. laumondii TT01, which was originally isolated in Trinidad and Tobago, has...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-018-5121-z

    authors: Zamora-Lagos MA,Eckstein S,Langer A,Gazanis A,Pfeiffer F,Habermann B,Heermann R

    更新日期:2018-11-29 00:00:00

  • Genome-scale identification of Caenorhabditis elegans regulatory elements by tiling-array mapping of DNase I hypersensitive sites.

    abstract:BACKGROUND:A major goal of post-genomics research is the integrated analysis of genes, regulatory elements and the chromatin architecture on a genome-wide scale. Mapping DNase I hypersensitive sites within the nuclear chromatin is a powerful and well-established method of identifying regulatory element candidates. RES...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-10-92

    authors: Shi B,Guo X,Wu T,Sheng S,Wang J,Skogerbø G,Zhu X,Chen R

    更新日期:2009-02-25 00:00:00

  • Reconstruction of temporal activity of microRNAs from gene expression data in breast cancer cell line.

    abstract:BACKGROUND:MicroRNAs (miRNAs) are small non-coding RNAs that regulate genes at the post-transcriptional level in spatiotemporal manner. Several miRNAs are identified as prognostic and diagnostic markers in many human cancers. Estimation of the temporal activities of the miRNAs is an important step in the way to underst...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-015-2260-3

    authors: Jayavelu ND,Bar N

    更新日期:2015-12-18 00:00:00

  • RNA-seq and microarray complement each other in transcriptome profiling.

    abstract:BACKGROUND:RNA-seq and microarray are the two popular methods employed for genome-wide transcriptome profiling. Current comparison studies have shown that transcriptome quantified by these two methods correlated well. However, none of them have addressed if they complement each other, considering the strengths and the ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-13-629

    authors: Kogenaru S,Qing Y,Guo Y,Wang N

    更新日期:2012-11-15 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

  • Acute systemic inflammatory response to lipopolysaccharide stimulation in pigs divergently selected for residual feed intake.

    abstract:BACKGROUND:It is unclear whether improving feed efficiency by selection for low residual feed intake (RFI) compromises pigs' immunocompetence. Here, we aimed at investigating whether pig lines divergently selected for RFI had different inflammatory responses to lipopolysaccharide (LPS) exposure, regarding to clinical p...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-019-6127-x

    authors: Liu H,Feye KM,Nguyen YT,Rakhshandeh A,Loving CL,Dekkers JCM,Gabler NK,Tuggle CK

    更新日期:2019-10-11 00:00:00

  • Construction of high-resolution genetic maps of Zoysia matrella (L.) Merrill and applications to comparative genomic analysis and QTL mapping of resistance to fall armyworm.

    abstract:BACKGROUND:Zoysia matrella, widely used in lawns and sports fields, is of great economic and ecological value. Z. matrella is an allotetraploid species (2n = 4x = 40) in the genus zoysia under the subfamily Chloridoideae. Despite its ecological impacts and economic importance, the subfamily Chloridoideae has received l...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-016-2969-7

    authors: Huang X,Wang F,Singh R,Reinert JA,Engelke MC,Genovesi AD,Chandra A,Yu Q

    更新日期:2016-08-08 00:00:00

  • 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

  • Inference of gene interaction networks using conserved subsequential patterns from multiple time course gene expression datasets.

    abstract:MOTIVATION:Deciphering gene interaction networks (GINs) from time-course gene expression (TCGx) data is highly valuable to understand gene behaviors (e.g., activation, inhibition, time-lagged causality) at the system level. Existing methods usually use a global or local proximity measure to infer GINs from a single dat...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-16-S12-S4

    authors: Liu Q,Song R,Li J

    更新日期:2015-01-01 00:00:00

  • Insights into the Musa genome: syntenic relationships to rice and between Musa species.

    abstract:BACKGROUND:Musa species (Zingiberaceae, Zingiberales) including bananas and plantains are collectively the fourth most important crop in developing countries. Knowledge concerning Musa genome structure and the origin of distinct cultivars has greatly increased over the last few years. Until now, however, no large-scale...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-9-58

    authors: Lescot M,Piffanelli P,Ciampi AY,Ruiz M,Blanc G,Leebens-Mack J,da Silva FR,Santos CM,D'Hont A,Garsmeur O,Vilarinhos AD,Kanamori H,Matsumoto T,Ronning CM,Cheung F,Haas BJ,Althoff R,Arbogast T,Hine E,Pappas GJ Jr,Sas

    更新日期:2008-01-30 00:00:00

  • Proteomic analysis of Citrus sinensis roots and leaves in response to long-term magnesium-deficiency.

    abstract:BACKGROUND:Magnesium (Mg)-deficiency is frequently observed in Citrus plantations and is responsible for the loss of productivity and poor fruit quality. Knowledge on the effects of Mg-deficiency on upstream targets is scarce. Seedlings of 'Xuegan' [Citrus sinensis (L.) Osbeck] were irrigated with Mg-deficient (0 mM Mg...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-015-1462-z

    authors: Peng HY,Qi YP,Lee J,Yang LT,Guo P,Jiang HX,Chen LS

    更新日期:2015-03-31 00:00:00

  • Computational prediction and experimental validation of evolutionarily conserved microRNA target genes in bilaterian animals.

    abstract:BACKGROUND:In many eukaryotes, microRNAs (miRNAs) bind to complementary sites in the 3'-untranslated regions (3'-UTRs) of target messenger RNAs (mRNAs) and regulate their expression at the stage of translation. Recent studies have revealed that many miRNAs are evolutionarily conserved; however, the evolution of their t...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-11-101

    authors: Takane K,Fujishima K,Watanabe Y,Sato A,Saito N,Tomita M,Kanai A

    更新日期:2010-02-09 00:00:00

  • Cotranscription and intergenic splicing of the PPARG and TSEN2 genes in cattle.

    abstract:BACKGROUND:Intergenic splicing resulting in the combination of mRNAs sequences from distinct genes is a newly identified mechanism likely to contribute to protein diversity. Few cases have been described, most of them involving neighboring genes and thus suggesting a cotranscription event presumably due to transcriptio...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-7-71

    authors: Roux M,Levéziel H,Amarger V

    更新日期:2006-04-04 00:00:00

  • The aspartic proteinase family of three Phytophthora species.

    abstract:BACKGROUND:Phytophthora species are oomycete plant pathogens with such major social and economic impact that genome sequences have been determined for Phytophthora infestans, P. sojae and P. ramorum. Pepsin-like aspartic proteinases (APs) are produced in a wide variety of species (from bacteria to humans) and contain c...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-12-254

    authors: Kay J,Meijer HJ,ten Have A,van Kan JA

    更新日期:2011-05-20 00:00:00

  • Large-scale analysis of post-translational modifications in E. coli under glucose-limiting conditions.

    abstract:BACKGROUND:Post-translational modification (PTM) of proteins is central to many cellular processes across all domains of life, but despite decades of study and a wealth of genomic and proteomic data the biological function of many PTMs remains unknown. This is especially true for prokaryotic PTM systems, many of which ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-017-3676-8

    authors: Brown CW,Sridhara V,Boutz DR,Person MD,Marcotte EM,Barrick JE,Wilke CO

    更新日期:2017-04-17 00:00:00