Generation of a non-small cell lung cancer transcriptome microarray.

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:Whether high blood pressure has a causal effect on cognitive function as early as middle age is unclear. We investigated whether high blood pressure (BP) causally impairs cognitive function at midlife using Mendelian Randomization (MR). METHODS:We applied a two-sample MR approach to investigate the causal r...

journal_title：BMC medical genomics

authors： Sun D,Thomas EA,Launer LJ,Sidney S,Yaffe K,Fornage M

更新日期：2020-08-26 00:00:00

abstract：BACKGROUND:Nicolaides-Baraitser syndrome (NCBRS) is a neurodevelopmental disorder caused by pathogenic sequence variants in SMARCA2 which encodes the catalytic component of the chromatin remodeling BAF complex. Pathogenic variants in genes that encode epigenetic regulators have been associated with genome-wide changes ...

journal_title：BMC medical genomics

authors： Chater-Diehl E,Ejaz R,Cytrynbaum C,Siu MT,Turinsky A,Choufani S,Goodman SJ,Abdul-Rahman O,Bedford M,Dorrani N,Engleman K,Flores-Daboub J,Genevieve D,Mendoza-Londono R,Meschino W,Perrin L,Safina N,Townshend S,Scherer S

更新日期：2019-07-09 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:Neoantigens can be differentially recognized by T cell receptor (TCR) as these sequences are derived from mutant proteins and are unique to the tumor. The discovery of neoantigens is the first key step for tumor-specific antigen (TSA) based immunotherapy. Based on high-throughput tumor genomic analysis, each...

journal_title：BMC medical genomics

authors： Li Y,Wang G,Tan X,Ouyang J,Zhang M,Song X,Liu Q,Leng Q,Chen L,Xie L

更新日期：2020-04-03 00:00:00

abstract：BACKGROUND:The early diagnosis of lung cancer has been a critical problem in clinical practice for a long time and identifying differentially expressed gene as disease marker is a promising solution. However, the most existing gene differential expression analysis (DEA) methods have two main drawbacks: First, these met...

journal_title：BMC medical genomics

authors： Zhao Z,Peng H,Zhang X,Zheng Y,Chen F,Fang L,Li J

更新日期：2019-12-20 00:00:00

abstract：BACKGROUND:The HIV viral genome mutates at a high rate and poses a significant long term health risk even in the presence of combination antiretroviral therapy. Current methods for predicting a patient's response to therapy rely on site-directed mutagenesis experiments and in vitro resistance assays. In this bioinforma...

journal_title：BMC medical genomics

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

更新日期：2009-07-23 00:00:00

abstract：BACKGROUND:Chiari Type I Malformation (CMI) is characterized by herniation of the cerebellar tonsils through the foramen magnum at the base of the skull, resulting in significant neurologic morbidity. As CMI patients display a high degree of clinical variability and multiple mechanisms have been proposed for tonsillar ...

journal_title：BMC medical genomics

authors： Markunas CA,Lock E,Soldano K,Cope H,Ding CK,Enterline DS,Grant G,Fuchs H,Ashley-Koch AE,Gregory SG

更新日期：2014-06-25 00:00:00

abstract：BACKGROUND:Integrating multiple data sources is indispensable in improving disease gene identification. It is not only due to the fact that disease genes associated with similar genetic diseases tend to lie close with each other in various biological networks, but also due to the fact that gene-disease associations are...

journal_title：BMC medical genomics

authors： Chen B,Li M,Wang J,Shang X,Wu FX

更新日期：2015-01-01 00:00:00

abstract：BACKGROUND:To explore long-non-coding RNA (lncRNA), microRNA (miRNA) and messenger RNA (mRNA) expression profiles and their biological functions in the urine samples in calcium oxalate (CaOx) patients. METHODS:Five CaOx kidney stone patients were recruited in CaOx stone group and six healthy people were included as co...

journal_title：BMC medical genomics

authors： Liang X,Lai Y,Wu W,Chen D,Zhong F,Huang J,Zeng T,Duan X,Huang Y,Zhang S,Li S,Wu W

更新日期：2019-04-29 00:00:00

abstract：BACKGROUND:Dementia with Lewy bodies (DLB) is the second most common subtype of neurodegenerative dementia in humans following Alzheimer's disease (AD). Present clinical diagnosis of DLB has high specificity and low sensitivity and finding potential biomarkers of prodromal DLB is still challenging. MicroRNAs (miRNAs) h...

journal_title：BMC medical genomics

authors： Shigemizu D,Akiyama S,Asanomi Y,Boroevich KA,Sharma A,Tsunoda T,Sakurai T,Ozaki K,Ochiya T,Niida S

更新日期：2019-10-30 00:00:00

abstract：BACKGROUND:Systemic sclerosis (SSc), a multi-organ disorder, is characterized by vascular abnormalities, dysregulation of the immune system, and fibrosis. The mechanisms underlying tissue pathology in SSc have not been entirely understood. This study intended to investigate the common and tissue-specific pathways invol...

journal_title：BMC medical genomics

authors： Karimizadeh E,Sharifi-Zarchi A,Nikaein H,Salehi S,Salamatian B,Elmi N,Gharibdoost F,Mahmoudi M

更新日期：2019-12-27 00:00:00

abstract：BACKGROUND:Glioblastoma multiforme (GBM) tends to occur between the ages of 45 and 70. This relatively early onset and its poor prognosis make the impact of GBM on public health far greater than would be suggested by its relatively low frequency. Tissue and blood samples have now been collected for a number of populati...

journal_title：BMC medical genomics

authors： Yang TH,Kon M,Hung JH,Delisi C

更新日期：2011-08-09 00:00:00

abstract：BACKGROUND:Hypermethylation of promoter CpG islands with associated loss of gene expression, and hypomethylation of CpG-rich repetitive elements that may destabilize the genome are common events in most, if not all, epithelial cancers. METHODS:The methylation of 6,502 CpG-rich sequences spanning the genome was analyze...

journal_title：BMC medical genomics

authors： Watts GS,Futscher BW,Holtan N,Degeest K,Domann FE,Rose SL

更新日期：2008-09-30 00:00:00

abstract：BACKGROUND:Primary microcephaly represents an example of clinically and genetically heterogeneous condition. Here we describe a case of primary microcephaly from the Karachay-Cherkess Republic, which was initially diagnosed with Seckel syndrome. CASE PRESENTATION:Clinical exome sequencing of the proband revealed a nov...

journal_title：BMC medical genomics

authors： Marakhonov AV,Konovalov FA,Makaov AK,Vasilyeva TA,Kadyshev VV,Galkina VA,Dadali EL,Kutsev SI,Zinchenko RA

更新日期：2018-02-13 00:00:00

abstract：BACKGROUND:Birt-Hogg-Dubé syndrome (BHD) is an autosomal dominant disorder caused by germline mutations in the folliculin gene (FLCN). Nearly 150 pathogenic mutations have been identified in FLCN. The most frequent pattern is a frameshift mutation within a coding exon. In addition, splice-site mutations have been repor...

journal_title：BMC medical genomics

authors： Furuya M,Kobayashi H,Baba M,Ito T,Tanaka R,Nakatani Y

更新日期：2018-05-02 00:00:00

abstract：BACKGROUND:A plethora of cases are reported in the literature with iso- and ring-chromosome 18. However, co-occurrence of these two abnormalities in an individual along with a third cell line and absence of numerical anomaly is extremely rare. CASE PRESENTATION:A 7-year-old female was referred for diagnosis due to gro...

journal_title：BMC medical genomics

authors： Sheth H,Trivedi S,Liehr T,Patel K,Jain D,Sheth J,Sheth F

更新日期：2020-09-24 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: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: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:Gulf War Illness (GWI) is a complex multi-symptom disorder that affects up to one in three veterans of this 1991 conflict and for which no effective treatment has been found. Discovering novel treatment strategies for such a complex chronic illness is extremely expensive, carries a high probability of failur...

journal_title：BMC medical genomics

authors： Craddock TJ,Harvey JM,Nathanson L,Barnes ZM,Klimas NG,Fletcher MA,Broderick G

更新日期：2015-07-09 00:00:00

abstract：BACKGROUND:DNA methylation is thought to be extensively involved in the pathogenesis of many diseases, including major psychosis. However, most studies focus on DNA methylation alteration at promoters of protein-coding genes, despite the poor correlation between DNA methylation and gene expression. METHODS:We analyzed...

journal_title：BMC medical genomics

authors： Zhao H,Xu J,Pang L,Zhang Y,Fan H,Liu L,Liu T,Yu F,Zhang G,Lan Y,Bai J,Li X,Xiao Y

更新日期：2015-10-14 00:00:00

abstract：BACKGROUND:While most pediatric sarcomas respond to front-line therapy, some bone sarcomas do not show radiographic response like soft-tissue sarcomas (rhabdomyosarccomas) but do show 90% necrosis. Though, new therapies are urgently needed to improve survival and quality of life in pediatric patients with sarcomas. Com...

journal_title：BMC medical genomics

authors： Cheng L,Pandya PH,Liu E,Chandra P,Wang L,Murray ME,Carter J,Ferguson M,Saadatzadeh MR,Bijangi-Visheshsaraei K,Marshall M,Li L,Pollok KE,Renbarger JL

更新日期：2019-01-31 00:00:00

abstract：BACKGROUND:At least 90% of human genes are alternatively spliced. Alternative splicing has an important function regulating gene expression and miss-splicing can contribute to risk for human diseases, including Alzheimer's disease (AD). METHODS:We developed a splicing decision model as a molecular mechanism to identif...

journal_title：BMC medical genomics

authors： Han S,Miller JE,Byun S,Kim D,Risacher SL,Saykin AJ,Lee Y,Nho K,for Alzheimer’s Disease Neuroimaging Initiative.

更新日期：2019-01-31 00:00:00

abstract：BACKGROUND:To get insight into molecular mechanisms underlying insulin resistance, we compared acute in vivo effects of insulin on adipose tissue transcriptional profiles between obese insulin-resistant and lean insulin-sensitive women. METHODS:Subcutaneous adipose tissue biopsies were obtained before and after 3 and ...

journal_title：BMC medical genomics

authors： Soronen J,Laurila PP,Naukkarinen J,Surakka I,Ripatti S,Jauhiainen M,Olkkonen VM,Yki-Järvinen H

更新日期：2012-04-03 00:00:00

abstract：BACKGROUND:Small non-coding regulatory RNAs control cellular functions at the transcriptional and post-transcriptional levels. Oral squamous cell carcinoma is among the leading cancers in the world and the presence of cervical lymph node metastases is currently its strongest prognostic factor. In this work we aimed at ...

journal_title：BMC medical genomics

authors： Severino P,Oliveira LS,Andreghetto FM,Torres N,Curioni O,Cury PM,Toporcov TN,Paschoal AR,Durham AM

更新日期：2015-06-24 00:00:00

abstract：BACKGROUND:One of the tasks in the 2017 iDASH secure genome analysis competition was to enable training of logistic regression models over encrypted genomic data. More precisely, given a list of approximately 1500 patient records, each with 18 binary features containing information on specific mutations, the idea was f...

journal_title：BMC medical genomics

authors： Chen H,Gilad-Bachrach R,Han K,Huang Z,Jalali A,Laine K,Lauter K

更新日期：2018-10-11 00:00:00

abstract：BACKGROUND:One of the major goals of genomic medicine is the identification of causal genomic variants in a patient and their relation to the observed clinical phenotypes. Prioritizing the genomic variants by considering only the genotype information usually identifies a few hundred potential variants. Narrowing it dow...

journal_title：BMC medical genomics

authors： Rao A,Vg S,Joseph T,Kotte S,Sivadasan N,Srinivasan R

更新日期：2018-07-06 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:Ciguatoxins (CTXs) are polyether marine neurotoxins found in multiple reef-fish species and are potent activators of voltage-gated sodium channels. It is estimated that up to 500,000 people annually experience acute ciguatera poisoning from consuming toxic fish and a small percentage of these victims will de...

journal_title：BMC medical genomics

authors： Ryan JC,Wu Q,Shoemaker RC

更新日期：2015-04-02 00:00:00