abstract：BACKGROUND:The opioid use disorder and overdose crisis in the United States affects public health as well as social and economic welfare. While several genetic and non-genetic risk factors for opioid use disorder have been identified, many of the genetic associations have not been independently replicated, and it is no...

journal_title：BMC medical genomics

authors： Heil J,Zajic S,Albertson E,Brangan A,Jones I,Roberts W,Sabia M,Bodofsky E,Resch A,Rafeq R,Haroz R,Buono R,Ferraro TN,Scheinfeldt L,Salzman M,Baston K

更新日期：2021-01-07 00:00:00

abstract：BACKGROUND:Preeclampsia (PE) is a pregnancy-related condition that affects both the infant and the mother. Although the role of various inflammatory molecules in PE has been demonstrated, the importance of pro-inflammatory molecules such as IL-17A, IL-23 is not well understood. In the present investigation, a potential...

journal_title：BMC medical genomics

authors： Lang X,Liu W,Hou Y,Zhao W,Yang X,Chen L,Yan Q,Cheng W

更新日期：2021-01-06 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:DNA methylation is a key epigenetic regulator contributing to cancer development. To understand the role of DNA methylation in tumorigenesis, it is important to investigate and compare differential methylation (DM) patterns between normal and case samples across different cancer types. However, current pan-c...

journal_title：BMC medical genomics

authors： Shi M,Tsui SK,Wu H,Wei Y

更新日期：2020-10-22 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: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: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:Single nucleotide variants account for approximately 90% of all known pathogenic variants responsible for human diseases. Recently discovered CRISPR/Cas9 base editors can correct individual nucleotides without cutting DNA and inducing double-stranded breaks. We aimed to find all possible pathogenic variants ...

journal_title：BMC medical genomics

authors： Lavrov AV,Varenikov GG,Skoblov MY

更新日期：2020-09-18 00:00:00

abstract：BACKGROUND:Advanced age-related macular degeneration (AMD) is a leading cause of blindness. While around half of the genetic contribution to advanced AMD has been uncovered, little is known about the genetic architecture of early AMD. METHODS:To identify genetic factors for early AMD, we conducted a genome-wide associ...

journal_title：BMC medical genomics

authors： Winkler TW,Grassmann F,Brandl C,Kiel C,Günther F,Strunz T,Weidner L,Zimmermann ME,Korb CA,Poplawski A,Schuster AK,Müller-Nurasyid M,Peters A,Rauscher FG,Elze T,Horn K,Scholz M,Cañadas-Garre M,McKnight AJ,Quinn N,H

更新日期：2020-08-26 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:Colon adenocarcinoma (COAD) is one of the most common gastrointestinal cancers globally. Molecular aberrations of tumor suppressors and/or oncogenes are the main contributors to tumorigenesis. However, the exact underlying mechanisms of COAD pathogenesis are clearly not known yet. In this regard, there is an...

journal_title：BMC medical genomics

authors： Poursheikhani A,Abbaszadegan MR,Nokhandani N,Kerachian MA

更新日期：2020-07-29 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: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:Since it is assumed that genetic interactions play an important role in understanding the mechanisms of complex diseases, different statistical approaches have been suggested in recent years for this task. One interesting approach is the entropy-based IGENT method by Kwon et al. that promises an efficient de...

journal_title：BMC medical genomics

authors： Malten J,König IR

更新日期：2020-04-23 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:As the sixth most common cancer worldwide, head and neck squamous cell carcinoma (HNSCC) develops visceral metastases during the advanced stage of the disease and exhibits a low five-year survival rate. The importance of tumor microenvironment (TME) in tumor initiation and metastasis is widely recognized. In...

journal_title：BMC medical genomics

authors： Zhong Z,Hong M,Chen X,Xi Y,Xu Y,Kong D,Deng J,Li Y,Hu R,Sun C,Liang J

更新日期：2020-03-30 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:12q14 microdeletion syndrome is characterized by low birth weight and failure to thrive, proportionate short stature and developmental delay. The opposite syndrome (microduplication) has not yet been characterized. Our main objective is the recognition of a new clinical entity - 12q14 microduplication syndro...

journal_title：BMC medical genomics

authors： Dória S,Alves D,Pinho MJ,Pinto J,Leão M

更新日期：2020-01-03 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: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: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 complexity of genome informatics is a recurring challenge for genome exploration and analysis by students and other non-experts. This complexity creates a barrier to wider implementation of experiential genomics education, even in settings with substantial computational resources and expertise. Reducing ...

journal_title：BMC medical genomics

authors： Linderman MD,McElroy L,Chang L

更新日期：2019-11-27 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: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:Non-coding RNA has been shown to participate in numerous biological and pathological processes and has attracted increasing attention in recent years. Recent studies have demonstrated that long non-coding RNA and micro RNA can interact through various mechanisms to regulate mRNA. Yet the gene-gene interactio...

journal_title：BMC medical genomics

authors： Liao J,Wang J,Liu Y,Li J,Duan L

更新日期：2019-08-23 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: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:Gastric emptying is impaired in patients with gastroparesis whereas it is either unchanged or accelerated in obese individuals. The goal of the current study was to identify changes in gene expression in the stomach muscularis that may be contributing to altered gastric motility in idiopathic gastroparesis a...

journal_title：BMC medical genomics

authors： Herring BP,Chen M,Mihaylov P,Hoggatt AM,Gupta A,Nakeeb A,Choi JN,Wo JM

更新日期：2019-06-20 00:00:00

abstract：BACKGROUND:Intra-tumor heterogeneity stems from genetic, epigenetic, functional, and environmental differences among tumor cells. A major source of genetic heterogeneity comes from DNA sequence differences and/or whole chromosome and focal copy number variations (CNVs). Whole chromosome CNVs are caused by chromosomal i...

journal_title：BMC medical genomics

authors： Zhao Y,Carter R,Natarajan S,Varn FS,Compton DA,Gawad C,Cheng C,Godek KM

更新日期：2019-05-31 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:Preterm birth (PTB), defined as infant delivery before 37 weeks of completed gestation, results from the interaction of both genetic and environmental components and constitutes a complex multifactorial syndrome. Transcriptome analysis of PTB has proven challenging because of the multiple causes of PTB and t...

journal_title：BMC medical genomics

authors： Pereyra S,Sosa C,Bertoni B,Sapiro R

更新日期：2019-04-01 00:00:00

abstract：BACKGROUND:Fat mass and obesity-associated (FTO) gene has been under close investigation since the discovery of its high impact on the obesity status in 2007 by a range of publications. Recent report on its implication in adipocytes underscored its molecular and functional mechanics in pathology. Still, the population ...

journal_title：BMC medical genomics

authors： Babenko V,Babenko R,Gamieldien J,Markel A

更新日期：2019-03-13 00:00:00

abstract：BACKGROUND:Prognostic signatures are vital to precision medicine. However, development of somatic mutation prognostic signatures for cancers remains a challenge. In this study we developed a novel method for discovering somatic mutation based prognostic signatures. RESULTS:Somatic mutation and clinical data for lung a...

journal_title：BMC medical genomics

authors： Menor M,Zhu Y,Wang Y,Zhang J,Jiang B,Deng Y

更新日期：2019-01-31 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:Glucocorticoids act on the glucocorticoid receptor (GR; NR3C1) to resolve inflammation and, as inhaled corticosteroids (ICS), are the cornerstone of treatment for asthma. However, reduced efficacy in severe disease or exacerbations indicates a need to improve ICS actions. METHODS:Glucocorticoid-driven trans...

journal_title：BMC medical genomics

authors： Mostafa MM,Rider CF,Shah S,Traves SL,Gordon PMK,Miller-Larsson A,Leigh R,Newton R

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：: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：BACKGROUND:Microtia-atresia is characterized by abnormalities of the auricle (microtia) and aplasia or hypoplasia of the external auditory canal, often associated with middle ear abnormalities. To date, no causal genetic mutations or genes have been identified in microtia-atresia patients. METHODS:We designed a panel ...

journal_title：BMC medical genomics

authors： Wang P,Wang Y,Fan X,Liu Y,Fan Y,Liu T,Chen C,Zhang S,Chen X

更新日期：2019-01-28 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: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