cnvScan: a CNV screening and annotation tool to improve the clinical utility of computational CNV prediction from exome sequencing data.

abstract：BACKGROUND:Alternative splicing (AS) regulation is extensive and shapes the functional complexity of higher organisms. However, the contribution of alternative splicing to fungal biology is not well studied. RESULTS:This study provides sequences of the transcriptomes of the plant wilt pathogen Verticillium dahliae, us...

journal_title：BMC genomics

authors： Jin L,Li G,Yu D,Huang W,Cheng C,Liao S,Wu Q,Zhang Y

更新日期：2017-02-06 00:00:00

abstract：BACKGROUND:Genetic association studies that seek to explain the inheritance of complex traits typically fail to explain a majority of the heritability of the trait under study. Thus, we are left with a gap in the map from genotype to phenotype. Several approaches have been used to fill this gap, including those that at...

journal_title：BMC genomics

authors： Harrison BR,Wang L,Gajda E,Hoffman EV,Chung BY,Pletcher SD,Raftery D,Promislow DEL

更新日期：2020-05-04 00:00:00

abstract：BACKGROUND:Horizontal gene transfer has shaped the evolution of the ammonium transporter/ammonia permease gene family. Horizontal transfers of ammonium transporter/ammonia permease genes into the fungi include one transfer from archaea to the filamentous ascomycetes associated with the adaptive radiation of the leotiom...

journal_title：BMC genomics

authors： McDonald TR,Mueller O,Dietrich FS,Lutzoni F

更新日期：2013-04-04 00:00:00

abstract：BACKGROUND:It is becoming apparent that perhaps as much as half of the genome of the human blood fluke Schistosoma mansoni is constituted of mobile genetic element-related sequences. Non-long terminal repeat (LTR) retrotransposons, related to the LINE elements of mammals, comprise much of this repetitive component of t...

journal_title：BMC genomics

authors： Laha T,Kewgrai N,Loukas A,Brindley PJ

更新日期：2005-11-04 00:00:00

abstract：BACKGROUND:Bacterial vaginosis (BV) is an ecological disorder of the vaginal microbiota that affects millions of women annually, and is associated with numerous adverse health outcomes including pre-term birth and the acquisition of sexually transmitted infections. However, little is known about the overall structure a...

journal_title：BMC genomics

authors： Ling Z,Kong J,Liu F,Zhu H,Chen X,Wang Y,Li L,Nelson KE,Xia Y,Xiang C

更新日期：2010-09-07 00:00:00

abstract：BACKGROUND:Allelic variation is the cornerstone of genetically determined differences in gene expression, gene product structure, physiology, and behavior. However, allelic variation, particularly cryptic (unknown or not annotated) variation, is problematic for follow up analyses. Polymorphisms result in a high inciden...

journal_title：BMC genomics

authors： Walter NA,Bottomly D,Laderas T,Mooney MA,Darakjian P,Searles RP,Harrington CA,McWeeney SK,Hitzemann R,Buck KJ

更新日期：2009-08-17 00:00:00

abstract：BACKGROUND:Panax notoginseng (Burk) F.H. Chen is important medicinal plant of the Araliacease family. Triterpene saponins are the bioactive constituents in P. notoginseng. However, available genomic information regarding this plant is limited. Moreover, details of triterpene saponin biosynthesis in the Panax species ar...

journal_title：BMC genomics

authors： Luo H,Sun C,Sun Y,Wu Q,Li Y,Song J,Niu Y,Cheng X,Xu H,Li C,Liu J,Steinmetz A,Chen S

更新日期：2011-12-23 00:00:00

abstract：BACKGROUND:The purpose of this research was to develop a novel information theoretic method and an efficient algorithm for analyzing the gene-gene (GGI) and gene-environmental interactions (GEI) associated with quantitative traits (QT). The method is built on two information-theoretic metrics, the k-way interaction inf...

journal_title：BMC genomics

authors： Chanda P,Sucheston L,Liu S,Zhang A,Ramanathan M

更新日期：2009-11-04 00:00:00

abstract：BACKGROUND:Unveiling fungal genome structure and function reveals the potential biotechnological use of fungi. Trichoderma harzianum is a powerful CAZyme-producing fungus. We studied the genomic regions in T. harzianum IOC3844 containing CAZyme genes, transcription factors and transporters. RESULTS:We used bioinformat...

journal_title：BMC genomics

authors： Ferreira Filho JA,Horta MAC,Dos Santos CA,Almeida DA,Murad NF,Mendes JS,Sforça DA,Silva CBC,Crucello A,de Souza AP

更新日期：2020-11-02 00:00:00

abstract：BACKGROUND:Endogenous α-synuclein (α-Syn) is involved in many pathophysiological processes in the secondary injury stage after acute spinal cord injury (SCI), and the mechanism governing these functions has not been thoroughly elucidated to date. This research aims to characterize the effect of α-Syn knockdown on trans...

journal_title：BMC genomics

authors： Zeng H,Yu BF,Liu N,Yang YY,Xing HY,Liu XX,Zhou MW

更新日期：2019-11-14 00:00:00

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

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

abstract：BACKGROUND:Aberrant DNA methylation is a hallmark of many cancers. Classically there are two types of endometrial cancer, endometrioid adenocarcinoma (EAC), or Type I, and uterine papillary serous carcinoma (UPSC), or Type II. However, the whole genome DNA methylation changes in these two classical types of endometrial...

journal_title：BMC genomics

authors： Zhang B,Xing X,Li J,Lowdon RF,Zhou Y,Lin N,Zhang B,Sundaram V,Chiappinelli KB,Hagemann IS,Mutch DG,Goodfellow PJ,Wang T

更新日期：2014-10-06 00:00:00

abstract：BACKGROUND:Small RNAs (sRNAs) have emerged as important regulatory molecules and have been studied in several bacteria. However, to date, there have been no whole-transcriptome studies on sRNAs in any of the Soft Rot Enterobacteriaceae (SRE) group of pathogens. Although the main ecological niches for these pathogens ar...

journal_title：BMC genomics

authors： Kwenda S,Gorshkov V,Ramesh AM,Naidoo S,Rubagotti E,Birch PR,Moleleki LN

更新日期：2016-01-12 00:00:00

abstract：BACKGROUND:Helitrons are class-II eukaryotic transposons that transpose via a rolling circle mechanism. Due to their ability to capture and mobilize gene fragments, they play an important role in the evolution of their host genomes. We have used a bioinformatics approach for the identification of helitrons in two Pleur...

journal_title：BMC genomics

authors： Castanera R,Pérez G,López L,Sancho R,Santoyo F,Alfaro M,Gabaldón T,Pisabarro AG,Oguiza JA,Ramírez L

更新日期：2014-12-05 00:00:00

abstract：BACKGROUND:Arrhythmogenic cardiomyopathy (ACM) is a genetic autosomal disease characterized by abnormal cell-cell adhesion, cardiomyocyte death, progressive fibro-adipose replacement of the myocardium, arrhythmias and sudden death. Several different cell types contribute to the pathogenesis of ACM, including, as recent...

journal_title：BMC genomics

authors： Rainer J,Meraviglia V,Blankenburg H,Piubelli C,Pramstaller PP,Paolin A,Cogliati E,Pompilio G,Sommariva E,Domingues FS,Rossini A

更新日期：2018-06-25 00:00:00

abstract：BACKGROUND:The Xklp2 (TPX2) proteins belong to the microtubule-associated (MAP) family of proteins. All members of the family contain the conserved TPX2 motif, which can interact with microtubules, regulate microtubule dynamics or assist with different microtubule functions, for example, maintenance of cell morphology ...

journal_title：BMC genomics

authors： Du P,Kumar M,Yao Y,Xie Q,Wang J,Zhang B,Gan S,Wang Y,Wu AM

更新日期：2016-11-24 00:00:00

abstract：BACKGROUND:Starches are the main storage polysaccharides in plants and are distributed widely throughout plants including seeds, roots, tubers, leaves, stems and so on. Currently, microscopic observation is one of the most important ways to investigate and analyze the structure of starches. The position, shape, and siz...

journal_title：BMC genomics

authors： Guo S,Tang J,Deng Y,Xia Q

更新日期：2010-11-02 00:00:00

abstract：BACKGROUND:Intragenic tandem repeats occur throughout all domains of life and impart functional and structural variability to diverse translation products. Repeat proteins confer distinctive surface phenotypes to many unicellular organisms, including those with minimal genomes such as the wall-less bacterial monoderms,...

journal_title：BMC genomics

authors： Röske K,Foecking MF,Yooseph S,Glass JI,Calcutt MJ,Wise KS

更新日期：2010-07-13 00:00:00

abstract：BACKGROUND:An estimated 15,000 children and adolescents under the age of 19 years are diagnosed with leukemia, lymphoma and other tumors in the USA every year. All children and adolescent acute leukemia patients will undergo chemotherapy as part of their treatment regimen. Fortunately, survival rates for most pediatric...

journal_title：BMC genomics

authors： Rajagopala SV,Yooseph S,Harkins DM,Moncera KJ,Zabokrtsky KB,Torralba MG,Tovchigrechko A,Highlander SK,Pieper R,Sender L,Nelson KE

更新日期：2016-08-15 00:00:00

abstract：BACKGROUND:Fungal plant pathogens belonging to the genus Venturia cause damaging scab diseases of members of the Rosaceae. In terms of economic impact, the most important of these are V. inaequalis, which infects apple, and V. pirina, which is a pathogen of European pear. Given that Venturia fungi colonise the sub-cuti...

journal_title：BMC genomics

authors： Deng CH,Plummer KM,Jones DAB,Mesarich CH,Shiller J,Taranto AP,Robinson AJ,Kastner P,Hall NE,Templeton MD,Bowen JK

更新日期：2017-05-02 00:00:00

abstract：BACKGROUND:Fruit peel colour is an important agronomic trait for fruit quality. Cytosine methylation plays an important role in gene regulation. Although the DNA methylation level of a single gene is important to affect the phenotype of mutation, there are large unknown of difference of the DNA methylation in plant and...

journal_title：BMC genomics

authors： Jiang SH,Sun QG,Chen M,Wang N,Xu HF,Fang HC,Wang YC,Zhang ZY,Chen XS

更新日期：2019-02-07 00:00:00

abstract：BACKGROUND:Despite recent work to characterize gene expression changes associated with larval development in oysters, the mechanism by which the larval shell is first formed is still largely unknown. In Crassostrea gigas, this shell forms within the first 24 h post fertilization, and it has been demonstrated that chang...

journal_title：BMC genomics

authors： De Wit P,Durland E,Ventura A,Langdon CJ

更新日期：2018-02-22 00:00:00

abstract：BACKGROUND:High throughput genotyping of single nucleotide polymorphisms (SNPs) for genome-wide association requires technologies for generating millions of genotypes with relative ease but also at a reasonable cost and with high accuracy. In this work, we have developed a theoretical approach to estimate allele freque...

journal_title：BMC genomics

authors： Yin BC,Li H,Ye BC

更新日期：2008-12-16 00:00:00

abstract：BACKGROUND:Meta-analysis of QTLs combines the results of several QTL detection studies and provides narrow confidence intervals for meta-QTLs, permitting easier positional candidate gene identification. It is usually applied to multiple mapping populations, but can be applied to one. Here, a meta-analysis of drought re...

journal_title：BMC genomics

authors： Khowaja FS,Norton GJ,Courtois B,Price AH

更新日期：2009-06-22 00:00:00

abstract：BACKGROUND:We have previously reported on paucity of mitochondrial DNA (mtDNA) haplogroups J and K among Finnish endurance athletes. Here we aimed to further explore differences in mtDNA variants between elite endurance and sprint athletes. For this purpose, we determined the rate of functional variants and the mutatio...

journal_title：BMC genomics

authors： Kiiskilä J,Moilanen JS,Kytövuori L,Niemi AK,Majamaa K

更新日期：2019-10-29 00:00:00

abstract：BACKGROUND:Mitochondrial genomes comprise a small but critical component of the total DNA in eukaryotic organisms. They encode several key proteins for the cell's major energy producing apparatus, the mitochondrial respiratory chain. Additionally, their nucleotide and amino acid sequences are of great utility as marker...

journal_title：BMC genomics

authors： Lloyd RE,Foster PG,Guille M,Littlewood DT

更新日期：2012-09-19 00:00:00

abstract：BACKGROUND:Cryptosporidium hominis is a dominant species for human cryptosporidiosis. Within the species, IbA10G2 is the most virulent subtype responsible for all C. hominis-associated outbreaks in Europe and Australia, and is a dominant outbreak subtype in the United States. In recent yearsIaA28R4 is becoming a major ...

journal_title：BMC genomics

authors： Guo Y,Tang K,Rowe LA,Li N,Roellig DM,Knipe K,Frace M,Yang C,Feng Y,Xiao L

更新日期：2015-04-18 00:00:00

abstract：BACKGROUND:The hard clam or northern quahog, Mercenaria mercenaria, is one of the most valuable seafood products in the United States representing the first marine resource in some Northeastern states. Severe episodes of hard clam mortality have been consistently associated with infections caused by a thraustochytrid p...

journal_title：BMC genomics

authors： Rubin E,Tanguy A,Perrigault M,Pales Espinosa E,Allam B

更新日期：2014-03-28 00:00:00

abstract：BACKGROUND:Chronic renal disease (CKD) is characterized by complex changes in cell metabolism leading to an increased production of oxygen radicals, that, in turn has been suggested to play a key role in numerous clinical complications of this pathological condition. Several reports have focused on the identification o...

journal_title：BMC genomics

authors： Granata S,Zaza G,Simone S,Villani G,Latorre D,Pontrelli P,Carella M,Schena FP,Grandaliano G,Pertosa G

更新日期：2009-08-21 00:00:00

abstract：BACKGROUND:Understanding the genome sequence-specific positioning of nucleosomes is essential to understand various cellular processes, such as transcriptional regulation and replication. As a typical example, the 10-bp periodicity of AA/TT and GC dinucleotides has been reported in several species, but it is still uncl...

journal_title：BMC genomics

authors： Tanaka Y,Yamashita R,Suzuki Y,Nakai K

更新日期：2010-05-17 00:00:00