Transcriptome profiling reveals significant changes in the gastric muscularis externa with obesity that partially overlap those that occur with idiopathic gastroparesis.

abstract：BACKGROUND:Bladder cancer has numerous genomic features that are potentially actionable by targeted agents. Nevertheless, both pre-clinical and clinical research using molecular targeted agents have been very limited in bladder cancer. RESULTS:We created the Genomics of Drug Sensitivity in Bladder Cancer (GDBC) databa...

journal_title：BMC medical genomics

authors： Ansari AA,Park I,Kim I,Park S,Ahn SM,Lee JL

更新日期：2018-10-03 00:00:00

abstract：BACKGROUND:Accurate discovery of molecular biomarkers that are prognostic of a clinical outcome is an important yet challenging task, partly due to the combination of the typically weak genomic signal for a clinical outcome and the frequently strong noise due to microarray handling effects. Effective strategies to reso...

journal_title：BMC medical genomics

authors： Qin LX,Levine DA

更新日期：2016-06-10 00:00:00

abstract：BACKGROUND:The majority of copy number callers requires high read coverage data that is often achieved with elevated material input, which increases the heterogeneity of tissue samples. However, to gain insights into smaller areas within a tissue sample, e.g. a cancerous area in a heterogeneous tissue sample, less mate...

journal_title：BMC medical genomics

authors： Friedrich S,Barbulescu R,Helleday T,Sonnhammer ELL

更新日期：2020-06-01 00:00:00

abstract：BACKGROUND:A Mendelian transmission produces phenotypic and genetic relatedness between family members, giving family-based analytical methods an important role in genetic epidemiological studies-from heritability estimations to genetic association analyses. With the advance in genotyping technologies, whole-genome seq...

journal_title：BMC medical genomics

authors： Lee S,Choi S,Qiao D,Cho M,Silverman EK,Park T,Won S

更新日期：2018-04-20 00:00:00

abstract：:This editorial summarizes eight research articles included in this supplement issue for the 2020 International Conference on Intelligent Biology and Medicine (ICIBM 2020) conference, that was held on August 9-10, 2020 (virtual conference), with a topic on data-driven analytics in biomedical genomics. These articles co...

journal_title：BMC medical genomics

authors： Shi X,Zhao Z,Wang K,Shen L

更新日期：2020-12-28 00:00:00

abstract：BACKGROUND:Genomic data is increasingly collected by a wide array of organizations. As such, there is a growing demand to make summary information about such collections available more widely. However, over the past decade, a series of investigations have shown that attacks, rooted in statistical inference methods, can...

journal_title：BMC medical genomics

authors： Wan Z,Vorobeychik Y,Kantarcioglu M,Malin B

更新日期：2017-07-26 00:00:00

abstract：BACKGROUND:The purpose of this paper is to describe the data collection efforts and validation of PhenX measures in the Personalized Medicine Research Project (PMRP) cohort. METHODS:Thirty-six measures were chosen from the PhenX Toolkit within the following domains: demographics; anthropometrics; alcohol, tobacco and ...

journal_title：BMC medical genomics

authors： McCarty CA,Berg R,Rottscheit CM,Waudby CJ,Kitchner T,Brilliant M,Ritchie MD

更新日期：2014-01-14 00:00:00

abstract：BACKGROUND:With 15,949 markers, the low-density Infinium QC Array-24 BeadChip enables linkage analysis, HLA haplotyping, fingerprinting, ethnicity determination, mitochondrial genome variations, blood groups and pharmacogenomics. It represents an attractive independent QC option for NGS-based diagnostic laboratories, a...

journal_title：BMC medical genomics

authors： Ponomarenko P,Ryutov A,Maglinte DT,Baranova A,Tatarinova TV,Gai X

更新日期：2017-10-06 00:00:00

abstract：BACKGROUND:Non-small cell lung cancer (NSCLC) is the leading cause of cancer mortality worldwide. At present no reliable biomarkers are available to guide the management of this condition. Microarray technology may allow appropriate biomarkers to be identified but present platforms are lacking disease focus and are thu...

journal_title：BMC medical genomics

authors： Tanney A,Oliver GR,Farztdinov V,Kennedy RD,Mulligan JM,Fulton CE,Farragher SM,Field JK,Johnston PG,Harkin DP,Proutski V,Mulligan KA

更新日期：2008-05-30 00:00:00

abstract：BACKGROUND:While BMPR2 mutation strongly predisposes to pulmonary arterial hypertension (PAH), only 20% of mutation carriers develop clinical disease. This finding suggests that modifier genes contribute to FPAH clinical expression. Since modifiers are likely to be common alleles, this problem is not tractable by tradi...

journal_title：BMC medical genomics

authors： West J,Cogan J,Geraci M,Robinson L,Newman J,Phillips JA,Lane K,Meyrick B,Loyd J

更新日期：2008-09-29 00:00:00

abstract：BACKGROUND:Type 1 diabetes (T1D) is a complex disease and harmful to human health, and most of the existing biomarkers are mainly to measure the disease phenotype after the disease onset (or drastic deterioration). Until now, there is no effective biomarker which can predict the upcoming disease (or pre-disease state) ...

journal_title：BMC medical genomics

authors： Liu X,Liu R,Zhao XM,Chen L

更新日期：2013-01-01 00:00:00

abstract：BACKGROUND:Detection of copy number variants (CNVs) is an important aspect of clinical testing for several disorders, including Duchenne muscular dystrophy, and is often performed using multiplex ligation-dependent probe amplification (MLPA). However, since many genetic carrier screens depend instead on next-generation...

journal_title：BMC medical genomics

authors： Kozareva V,Stroff C,Silver M,Freidin JF,Delaney NF

更新日期：2018-10-20 00:00:00

abstract：BACKGROUND:The noninvasive prenatal diagnosis procedures that are currently used to detect genetic diseases do not achieve desirable levels of sensitivity and specificity. Recently, fetal methylated DNA biomarkers in maternal peripheral blood have been explored for the noninvasive prenatal detection of genetic disorder...

journal_title：BMC medical genomics

authors： Yin A,Zhang X,Wu J,Du L,He T,Zhang X

更新日期：2012-06-18 00:00:00

abstract：BACKGROUND:Breast cancer comprises multiple tumor entities associated with different biological features and clinical behaviors, making individualized medicine a powerful tool to bring the right drug to the right patient. Next generation sequencing of RNA (RNA-Seq) is a suitable method to detect targets for individuali...

journal_title：BMC medical genomics

authors： Meißner T,Fisch KM,Gioia L,Su AI

更新日期：2015-05-21 00:00:00

abstract：BACKGROUND:Balanced reciprocal chromosomal translocations (RCTs) are the ones of the most common structural aberrations in the population, with an incidence of 1:625. RCT carriers usually do not demonstrate changes in phenotype, except when the translocation results in gene interruption. However, these people are at ri...

journal_title：BMC medical genomics

authors： Pasińska M,Łazarczyk E,Jułga K,Bartnik-Głaska M,Nowakowska B,Haus O

更新日期：2018-08-20 00:00:00

abstract：BACKGROUND:Cancer shows a great diversity in its clinical behavior which cannot be easily predicted using the currently available clinical or pathological markers. The identification of pathways associated with lymph node metastasis (N+) and recurrent head and neck squamous cell carcinoma (HNSCC) may increase our under...

journal_title：BMC medical genomics

authors： Coló AE,Simoes AC,Carvalho AL,Melo CM,Fahham L,Kowalski LP,Soares FA,Neves EJ,Reis LF,Carvalho AF

更新日期：2011-04-13 00:00:00

abstract：BACKGROUND:Persistent infection by high risk HPV types (e.g. HPV-16, -18, -31, and -45) is the main risk factor for development of cervical intraepithelial neoplasia and cervical cancer. Tumor necrosis factor (TNF) is a key mediator of epithelial cell inflammatory response and exerts a potent cytostatic effect on norma...

journal_title：BMC medical genomics

authors： Termini L,Boccardo E,Esteves GH,Hirata R Jr,Martins WK,Colo AE,Neves EJ,Villa LL,Reis LF

更新日期：2008-06-27 00:00:00

abstract：BACKGROUND:Images embedded in biomedical publications carry rich information that often concisely summarize key hypotheses adopted, methods employed, or results obtained in a published study. Therefore, they offer valuable clues for understanding main content in a biomedical publication. Prior studies have pointed out ...

journal_title：BMC medical genomics

authors： Sheng J,Xu S,Luo X

更新日期：2013-01-01 00:00:00

abstract：BACKGROUND:The collection of viable DNA samples is an essential element of any genetics research programme. Biological samples for DNA purification are now routinely collected in many studies with a variety of sampling methods available. Initial observation in this study suggested a reduced genotyping success rate of s...

journal_title：BMC medical genomics

authors： Pulford DJ,Mosteller M,Briley JD,Johansson KW,Nelsen AJ

更新日期：2013-06-10 00:00:00

abstract：BACKGROUND:Urothelial carcinoma (UC) can arise at any location along the urothelial tract, including the urethra, bladder, ureter, or renal pelvis. Although tumors arising in these various locations have similar morphology, it is unclear whether the gene expression profiles are similar between the upper-tract (ureter a...

journal_title：BMC medical genomics

authors： Zhang Z,Furge KA,Yang XJ,Teh BT,Hansel DE

更新日期：2010-12-15 00:00:00

abstract：BACKGROUND:Epithelial to mesenchymal transition, and mimicking processes, contribute to cancer invasion and metastasis, and are known to be responsible for resistance to various therapeutic agents in many cancers. While a number of studies have proposed molecular signatures that characterize the spectrum of such transi...

journal_title：BMC medical genomics

authors： Celiku O,Tandle A,Chung JY,Hewitt SM,Camphausen K,Shankavaram U

更新日期：2017-03-09 00:00:00

abstract：BACKGROUND:Childhood leukemia is characterized by the presence of balanced chromosomal translocations or by other structural or numerical chromosomal changes. It is well know that leukemias with specific molecular abnormalities display profoundly different global gene expression profiles. However, it is largely unknown...

journal_title：BMC medical genomics

authors： Andersson A,Edén P,Olofsson T,Fioretos T

更新日期：2010-03-08 00:00:00

abstract：BACKGROUND:Acute erythro- and megakaryoblastic leukaemias are associated with very poor prognoses and the mechanism of blastic transformation is insufficiently elucidated. The murine Graffi leukaemia retrovirus induces erythro- and megakaryoblastic leukaemias when inoculated into NFS mice and represents a good model to...

journal_title：BMC medical genomics

authors： Voisin V,Legault P,Ospina DP,Ben-David Y,Rassart E

更新日期：2010-01-26 00:00:00

abstract：BACKGROUND:Testing strategies is crucial for genetics clinics and testing laboratories. In this study, we tried to compare the hit rate between solo and trio and trio plus testing and between trio and sibship testing. Finally, we studied the impact of extended family analysis, mainly in complex and unsolved cases. MET...

journal_title：BMC medical genomics

authors： Alfares A,Alsubaie L,Aloraini T,Alaskar A,Althagafi A,Alahmad A,Rashid M,Alswaid A,Alothaim A,Eyaid W,Ababneh F,Albalwi M,Alotaibi R,Almutairi M,Altharawi N,Alsamer A,Abdelhakim M,Kafkas S,Mineta K,Cheung N,Abdall

更新日期：2020-07-17 00:00:00

abstract：BACKGROUND:Current prostate cancer prognostic models are based on pre-treatment prostate specific antigen (PSA) levels, biopsy Gleason score, and clinical staging but in practice are inadequate to accurately predict disease progression. Hence, we sought to develop a molecular panel for prostate cancer progression by re...

journal_title：BMC medical genomics

authors： Sboner A,Demichelis F,Calza S,Pawitan Y,Setlur SR,Hoshida Y,Perner S,Adami HO,Fall K,Mucci LA,Kantoff PW,Stampfer M,Andersson SO,Varenhorst E,Johansson JE,Gerstein MB,Golub TR,Rubin MA,Andrén O

更新日期：2010-03-16 00:00:00

abstract：BACKGROUND:Host protein-protein interaction networks are altered by invading virus proteins, which create new interactions, and modify or destroy others. The resulting network topology favors excessive amounts of virus production in a stressed host cell network. Short linear peptide motifs common to both virus and host...

journal_title：BMC medical genomics

authors： Evans P,Dampier W,Ungar L,Tozeren A

更新日期：2009-05-18 00:00:00

abstract：BACKGROUND:Differential gene expression is important to understand the biological differences between healthy and diseased states. Two common sources of differential gene expression data are microarray studies and the biomedical literature. METHODS:With the aid of text mining and gene expression analysis we have exami...

journal_title：BMC medical genomics

authors： Rodriguez-Esteban R,Jiang X

更新日期：2017-10-11 00:00:00

abstract：BACKGROUND:The right dataset is essential to obtain the right insights in data science; therefore, it is important for data scientists to have a good understanding of the availability of relevant datasets as well as the content, structure, and existing analyses of these datasets. While a number of efforts are underway ...

journal_title：BMC medical genomics

authors： Shi J,Zheng M,Yao L,Ge Y

更新日期：2018-11-20 00:00:00

abstract：BACKGROUND:The mechanisms underlying neurodegeneration in the striatum of Huntingon's Disease (HD) brain are currently unknown. While the striatum is massively degenerated in symptomatic individuals, which makes cellular characterization difficult, it is largely intact in asymptomatic HD gene positive (HD+) individuals...

journal_title：BMC medical genomics

authors： Agus F,Crespo D,Myers RH,Labadorf A

更新日期：2019-10-16 00:00:00

abstract：BACKGROUND:Cancer cells are characterized by massive dysegulation of physiological cell functions with considerable disruption of transcriptional regulation. Genome-wide transcriptome profiling can be utilized for early detection and molecular classification of cancers. Accurate discrimination of functionally different...

journal_title：BMC medical genomics

authors： Krupp M,Maass T,Marquardt JU,Staib F,Bauer T,König R,Biesterfeld S,Galle PR,Tresch A,Teufel A

更新日期：2011-06-30 00:00:00