Variant detection and runs of homozygosity in next generation sequencing data elucidate the genetic background of Lundehund syndrome.

abstract：BACKGROUND:The Spemann/Mangold organizer is a transient tissue critical for patterning the gastrula stage vertebrate embryo and formation of the three germ layers. Despite its important role during development, there are still relatively few genes with specific expression in the organizer and its derivatives. Foxa2 is ...

journal_title：BMC genomics

authors： Tamplin OJ,Kinzel D,Cox BJ,Bell CE,Rossant J,Lickert H

更新日期：2008-10-30 00:00:00

abstract：BACKGROUND:Sugarcane is an important crop worldwide for sugar production and increasingly, as a renewable energy source. Modern cultivars have polyploid, large complex genomes, with highly unequal contributions from ancestral genomes. Long Terminal Repeat retrotransposons (LTR-RTs) are the single largest components of ...

journal_title：BMC genomics

authors： Domingues DS,Cruz GM,Metcalfe CJ,Nogueira FT,Vicentini R,Alves Cde S,Van Sluys MA

更新日期：2012-04-16 00:00:00

abstract：BACKGROUND:The diversity of placental architectures within and among mammalian orders is believed to be the result of adaptive evolution. Although, the genetic basis for these differences is unknown, some may arise from rapidly diverging and lineage-specific genes. Previously, we identified 91 novel lineage-specific tr...

journal_title：BMC genomics

authors： Kumar CG,Everts RE,Loor JJ,Lewin HA

更新日期：2010-03-09 00:00:00

abstract：BACKGROUND:The gonad is the major factor affecting animal reproduction. The regulatory mechanism of the expression of protein-coding genes involved in reproduction still remains to be elucidated. Increasing evidence has shown that ncRNAs play key regulatory roles in gene expression in many life processes. The roles of ...

journal_title：BMC genomics

authors： Ma X,Cen S,Wang L,Zhang C,Wu L,Tian X,Wu Q,Li X,Wang X

更新日期：2020-06-29 00:00:00

abstract：BACKGROUND:Technological advances have enabled transcriptome characterization of cell types at the single-cell level providing new biological insights. New methods that enable simple yet high-throughput single-cell expression profiling are highly desirable. RESULTS:Here we report a novel nanowell-based single-cell RNA...

journal_title：BMC genomics

authors： Goldstein LD,Chen YJ,Dunne J,Mir A,Hubschle H,Guillory J,Yuan W,Zhang J,Stinson J,Jaiswal B,Pahuja KB,Mann I,Schaal T,Chan L,Anandakrishnan S,Lin CW,Espinoza P,Husain S,Shapiro H,Swaminathan K,Wei S,Srinivasan M

更新日期：2017-07-07 00:00:00

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

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

abstract：BACKGROUND:Due to the high morbidity and mortality of fulminant hepatitis, early diagnosis followed by early effective treatment is the key for prognosis improvement. So far, little is known about the gene expression changes in the early stage of this serious illness. Identification of the genes related to the very ear...

journal_title：BMC genomics

authors： Chen F,Zhu HH,Zhou LF,Li J,Zhao LY,Wu SS,Wang J,Liu W,Chen Z

更新日期：2010-04-15 00:00:00

abstract：BACKGROUND:Obesity affects quality of life and life expectancy and is associated with cardiovascular disorders, cancer, diabetes, reproductive disorders in women, prostate diseases in men, and congenital anomalies in children. The use of single nucleotide polymorphism (SNP) markers of diseases and drug responses (i.e.,...

journal_title：BMC genomics

authors： Arkova OV,Ponomarenko MP,Rasskazov DA,Drachkova IA,Arshinova TV,Ponomarenko PM,Savinkova LK,Kolchanov NA

更新日期：2015-01-01 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:Several in vitro studies document the function of the transcriptional regulator TrmBL1 of Pyrococcus furiosus. These data indicate that the protein can act as repressor or activator and is mainly involved in transcriptional control of sugar uptake and in the switch between glycolysis and gluconeogenesis. The...

journal_title：BMC genomics

authors： Reichelt R,Gindner A,Thomm M,Hausner W

更新日期：2016-01-08 00:00:00

abstract：BACKGROUND:Metal tolerance is often an integrative result of metal uptake and distribution, which are fine-tuned by a network of signaling cascades and metal transporters. Thus, with the goal of advancing the molecular understanding of such metal homeostatic mechanisms, comparative RNAseq-based transcriptome analysis w...

journal_title：BMC genomics

authors： Cheng D,Tan M,Yu H,Li L,Zhu D,Chen Y,Jiang M

更新日期：2018-09-26 00:00:00

abstract：BACKGROUND:The mosquito species Aedes aegypti is the primary vector of many arboviral diseases, including dengue and yellow fevers, that are responsible for a large worldwide health burden. The biological rhythms of mosquitoes regulate many of the physiological processes and behaviors that influence the transmission of...

journal_title：BMC genomics

authors： Leming MT,Rund SS,Behura SK,Duffield GE,O'Tousa JE

更新日期：2014-12-17 00:00:00

abstract：BACKGROUND:Coral reefs are hotspots of oceanic biodiversity, forming the foundation of ecosystems that are important both ecologically and for their direct practical impacts on humans. Corals are declining globally due to a number of stressors, including rising sea-surface temperatures and pollution; such stresses can ...

journal_title：BMC genomics

authors： Lehnert EM,Burriesci MS,Pringle JR

更新日期：2012-06-22 00:00:00

abstract：BACKGROUND:Microarray gene expression (MAGE) signatures allow insights into the transcriptional processes of leukemias and may evolve as a molecular diagnostic test. Introduction of MAGE into clinical practice of leukemia diagnosis will require comprehensive assessment of variation due to the methodologies. Here we sys...

journal_title：BMC genomics

authors： Campo Dell'Orto M,Zangrando A,Trentin L,Li R,Liu WM,te Kronnie G,Basso G,Kohlmann A

更新日期：2007-06-22 00:00:00

abstract：BACKGROUND:Proliferation and tumor differentiation captured by the genomic grade index (GGI) are important prognostic indicators in breast cancer (BC) especially for the estrogen receptor positive (ER+) disease. The aims of this study were to convert this microarray index to a qRT-PCR assay (PCR-GGI), which could be re...

journal_title：BMC genomics

authors： Toussaint J,Sieuwerts AM,Haibe-Kains B,Desmedt C,Rouas G,Harris AL,Larsimont D,Piccart M,Foekens JA,Durbecq V,Sotiriou C

更新日期：2009-09-10 00:00:00

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

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

abstract：BACKGROUND:Existing functional description of genes are categorical, discrete, and mostly through manual process. In this work, we explore the idea of gene embedding, distributed representation of genes, in the spirit of word embedding. RESULTS:From a pure data-driven fashion, we trained a 200-dimension vector represe...

journal_title：BMC genomics

authors： Du J,Jia P,Dai Y,Tao C,Zhao Z,Zhi D

更新日期：2019-02-04 00:00:00

abstract：BACKGROUND:Protein structure comparison and classification is an effective method for exploring protein structure-function relations. This problem is computationally challenging. Many different computational approaches for protein structure comparison apply the secondary structure elements (SSEs) representation of prot...

journal_title：BMC genomics

authors： Ashby C,Johnson D,Walker K,Kanj IA,Xia G,Huang X

更新日期：2013-01-01 00:00:00

abstract：BACKGROUND:Sheath blight (SB), caused by Rhizoctonia solani, is a common rice disease worldwide. Currently, rice cultivars with robust resistance to R. solani are still lacking. To provide theoretic basis for molecular breeding of R. solani-resistant rice cultivars, the changes of transcriptome profiles in response to ...

journal_title：BMC genomics

authors： Shi W,Zhao SL,Liu K,Sun YB,Ni ZB,Zhang GY,Tang HS,Zhu JW,Wan BJ,Sun HQ,Dai JY,Sun MF,Yan GH,Wang AM,Zhu GY

更新日期：2020-03-19 00:00:00

abstract：BACKGROUND:Phenomena such as incomplete lineage sorting, horizontal gene transfer, gene duplication and subsequent sub- and neo-functionalisation can result in distinct local phylogenetic relationships that are discordant with species phylogeny. In order to assess the possible biological roles for these subdivisions, t...

journal_title：BMC genomics

authors： Zamani N,Russell P,Lantz H,Hoeppner MP,Meadows JR,Vijay N,Mauceli E,di Palma F,Lindblad-Toh K,Jern P,Grabherr MG

更新日期：2013-05-24 00:00:00

abstract：BACKGROUND:RNA-seq and small RNA-seq are powerful, quantitative tools to study gene regulation and function. Common high-throughput sequencing methods rely on polymerase chain reaction (PCR) to expand the starting material, but not every molecule amplifies equally, causing some to be overrepresented. Unique molecular i...

journal_title：BMC genomics

authors： Fu Y,Wu PH,Beane T,Zamore PD,Weng Z

更新日期：2018-07-13 00:00:00

abstract：BACKGROUND:Due to the predominant usage of short-read sequencing to date, most bacterial genome sequences reported in the last years remain at the draft level. This precludes certain types of analyses, such as the in-depth analysis of genome plasticity. RESULTS:Here we report the finalized genome sequence of the envir...

journal_title：BMC genomics

authors： Pfeiffer F,Zamora-Lagos MA,Blettinger M,Yeroslaviz A,Dahl A,Gruber S,Habermann BH

更新日期：2018-01-05 00:00:00

abstract：BACKGROUND:DNA methylation at promoters is largely correlated with inhibition of gene expression. However, the role of DNA methylation at enhancers is not fully understood, although a crosstalk with chromatin marks is expected. Actually, there exist contradictory reports about positive and negative correlations between...

journal_title：BMC genomics

authors： Sharifi-Zarchi A,Gerovska D,Adachi K,Totonchi M,Pezeshk H,Taft RJ,Schöler HR,Chitsaz H,Sadeghi M,Baharvand H,Araúzo-Bravo MJ

更新日期：2017-12-12 00:00:00

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

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

abstract：BACKGROUND:The cellular proteome and metabolome are underlying dynamic regulation allowing rapid adaptation to changes in the environment. System-wide analysis of these dynamics will provide novel insights into mechanisms of stress adaptation for higher photosynthetic organisms. We applied pulsed-SILAC labeling to a ph...

journal_title：BMC genomics

authors： Mastrobuoni G,Irgang S,Pietzke M,Assmus HE,Wenzel M,Schulze WX,Kempa S

更新日期：2012-05-31 00:00:00

abstract：BACKGROUND:Many tools exist to predict structural variants (SVs), utilizing a variety of algorithms. However, they have largely been developed and tested on human germline or somatic (e.g. cancer) variation. It seems appropriate to exploit this wealth of technology available for humans also for other species. Objective...

journal_title：BMC genomics

authors： Leung WY,Marschall T,Paudel Y,Falquet L,Mei H,Schönhuth A,Maoz Moss TY

更新日期：2015-03-25 00:00:00

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

authors： Kittichotirat W,Bumgarner R,Chen C

更新日期：2010-09-08 00:00:00

abstract：BACKGROUND:Mycoviruses are viruses that naturally infect and replicate in fungi. Aspergillus fumigatus, an opportunistic pathogen causing fungal lung diseases in humans and animals, was recently shown to harbour several different types of mycoviruses. A well-characterised defence against virus infection is RNA silencin...

journal_title：BMC genomics

authors： Özkan S,Mohorianu I,Xu P,Dalmay T,Coutts RHA

更新日期：2017-05-30 00:00:00

abstract：BACKGROUND:Restriction-modification (R-M) systems protect bacteria and archaea from attacks by bacteriophages and archaeal viruses. An R-M system specifically recognizes short sites in foreign DNA and cleaves it, while such sites in the host DNA are protected by methylation. Prokaryotic viruses have developed a number ...

journal_title：BMC genomics

authors： Rusinov IS,Ershova AS,Karyagina AS,Spirin SA,Alexeevski AV

更新日期：2018-12-07 00:00:00

abstract：BACKGROUND:Hop (Humulus lupulus L.) is an economically important plant forming organogenic nodules which can be used for genetic transformation and micropropagation. We are interested in the mechanisms underlying reprogramming of cells through stress and hormone treatments. RESULTS:An integrated molecular and metabolo...

journal_title：BMC genomics

authors： Fortes AM,Santos F,Choi YH,Silva MS,Figueiredo A,Sousa L,Pessoa F,Santos BA,Sebastiana M,Palme K,Malhó R,Verpoorte R,Pais MS

更新日期：2008-09-29 00:00:00