Saliva samples are a viable alternative to blood samples as a source of DNA for high throughput genotyping.

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：:During June 10-12, 2018, the International Conference on Intelligent Biology and Medicine (ICIBM 2018) was held in Los Angeles, California, USA. The conference included 11 scientific sessions, four tutorials, one poster session, four keynote talks and four eminent scholar talks that covered a wide range of topics rang...

journal_title：BMC medical genomics

authors： Zhi D,Zhao Z,Li F,Wu Z,Liu X,Wang K

更新日期：2019-01-31 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:Methotrexate is one of the earliest cytotoxic drugs used in cancer therapy, and despite the isolation of multiple other folate antagonists, methotrexate maintains its significant role as a treatment for different types of cancer and other disorders. The usefulness of treatment with methotrexate is limited by...

journal_title：BMC medical genomics

authors： Selga E,Morales C,Noé V,Peinado MA,Ciudad CJ

更新日期：2008-08-11 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:Urothelial carcinoma (UC) is characterized by nonrandom chromosomal aberrations, varying from one or a few changes in early-stage and low-grade tumors, to highly rearranged karyotypes in muscle-invasive lesions. Recent array-CGH analyses have shed further light on the genomic changes underlying the neoplasti...

journal_title：BMC medical genomics

authors： Heidenblad M,Lindgren D,Jonson T,Liedberg F,Veerla S,Chebil G,Gudjonsson S,Borg A,Månsson W,Höglund M

更新日期：2008-01-31 00:00:00

abstract：BACKGROUND:Gene expression profiling has shown its ability to identify with high accuracy low cytogenetic risk acute myeloid leukemia such as acute promyelocytic leukemia and leukemias with t(8;21) or inv(16). The aim of this gene expression profiling study was to evaluate to what extent suboptimal samples with low leu...

journal_title：BMC medical genomics

authors： de la Blétière DR,Blanchet O,Cornillet-Lefèbvre P,Coutolleau A,Baranger L,Geneviève F,Luquet I,Hunault-Berger M,Beucher A,Schmidt-Tanguy A,Zandecki M,Delneste Y,Ifrah N,Guardiola P

更新日期：2012-01-30 00:00:00

abstract：BACKGROUND:Head and neck squamous cell carcinoma (HNSCC) is one of the most common malignancies in humans. The average 5-year survival rate is one of the lowest among aggressive cancers, showing no significant improvement in recent years. When detected early, HNSCC has a good prognosis, but most patients present metast...

journal_title：BMC medical genomics

authors： Silveira NJ,Varuzza L,Machado-Lima A,Lauretto MS,Pinheiro DG,Rodrigues RV,Severino P,Nobrega FG,Head and Neck Genome Project GENCAPO.,Silva WA Jr,de B Pereira CA,Tajara EH

更新日期：2008-11-11 00:00:00

abstract：BACKGROUND:With the increasing amount of high-throughput genomic sequencing data, there is a growing demand for a robust and flexible tool to perform interaction analysis. The identification of SNP-SNP, SNP-CpG, and higher order interactions helps explain the genetic etiology of human diseases, yet genome-wide analysis...

journal_title：BMC medical genomics

authors： Sun R,Xia X,Chong KC,Zee BC,Wu WKK,Wang MH

更新日期：2019-12-24 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: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: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: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：BACKGROUNDS:Recent large-scale genetic studies often involve clustered phenotypes such as repeated measurements. Compared to a series of univariate analyses of single phenotypes, an analysis of clustered phenotypes can be useful for substantially increasing statistical power to detect more genetic associations. Moreove...

journal_title：BMC medical genomics

authors： Lee S,Kim S,Kim Y,Oh B,Hwang H,Park T

更新日期：2019-07-11 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:The zebrafish is recognized as a versatile cancer and drug screening model. However, it is not known whether the estrogen-responsive genes and signaling pathways that are involved in estrogen-dependent carcinogenesis and human cancer are operating in zebrafish. In order to determine the potential of zebrafis...

journal_title：BMC medical genomics

authors： Lam SH,Lee SG,Lin CY,Thomsen JS,Fu PY,Murthy KR,Li H,Govindarajan KR,Nick LC,Bourque G,Gong Z,Lufkin T,Liu ET,Mathavan S

更新日期：2011-05-16 00:00:00

abstract：BACKGROUND:Postmenopausal hormone therapy (HT) influences endogenous hormone concentrations and increases the risk of breast cancer. Gene expression profiling may reveal the mechanisms behind this relationship.Our objective was to explore potential associations between sex hormones and gene expression in whole blood fr...

journal_title：BMC medical genomics

authors： Waaseth M,Olsen KS,Rylander C,Lund E,Dumeaux V

更新日期：2011-03-31 00:00:00

abstract：BACKGROUND:The gene expression profile of cytologically-normal bronchial airway epithelial cells has previously been shown to be altered in patients with lung cancer. Although bronchoscopy is often used for the diagnosis of lung cancer, its sensitivity is imperfect, especially for small and peripheral suspicious lesion...

journal_title：BMC medical genomics

authors： Whitney DH,Elashoff MR,Porta-Smith K,Gower AC,Vachani A,Ferguson JS,Silvestri GA,Brody JS,Lenburg ME,Spira A

更新日期：2015-05-06 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:Despite being caused by mutations in different genes, diseases in the same phenotypic series are clinically similar, as reported in Part I of this study. Here, in Part II, we hypothesized that the phenotypic series too might be clinically similar. Furthermore, on the assumption that gene mutations indirectly...

journal_title：BMC medical genomics

authors： Gamba A,Salmona M,Cantù L,Bazzoni G

更新日期：2020-09-24 00:00:00

abstract：BACKGROUND:Uric acid is the primary byproduct of purine metabolism. Hyperuricemia is associated with body mass index (BMI), sex, and multiple complex diseases including gout, hypertension (HTN), renal disease, and type 2 diabetes (T2D). Multiple genome-wide association studies (GWAS) in individuals of European ancestry...

journal_title：BMC medical genomics

authors： Charles BA,Shriner D,Doumatey A,Chen G,Zhou J,Huang H,Herbert A,Gerry NP,Christman MF,Adeyemo A,Rotimi CN

更新日期：2011-02-04 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: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:Phelan-McDermid syndrome (PMS, OMIM#606232), or 22q13 deletion syndrome, is a rare genetic disorder caused by deletion of the distal long arm of chromosome 22 with a variety of clinical features that display considerably heterogeneous degrees of severity. The SHANK3 gene is understood to be the critical gene...

journal_title：BMC medical genomics

authors： Li S,Xi KW,Liu T,Zhang Y,Zhang M,Zeng LD,Li J

更新日期：2020-10-06 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

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:Rhodesiense sleeping sickness is caused by infection with T. b rhodesiense parasites resulting in an acute disease that is fatal if not treated in time. The aim of this study was to understand the global impact of active T. b rhodesiense infection on the patient's immune response in the early and late stages...

journal_title：BMC medical genomics

authors： Mulindwa J,Matovu E,Enyaru J,Clayton C

更新日期：2020-01-30 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: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: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