The biorepository portal toolkit: an honest brokered, modular service oriented software tool set for biospecimen-driven translational research.

Abstract:

BACKGROUND:High throughput molecular sequencing and increased biospecimen variety have introduced significant informatics challenges for research biorepository infrastructures. We applied a modular system integration approach to develop an operational biorepository management system. This method enables aggregation of the clinical, specimen and genomic data collected for biorepository resources. METHODS:We introduce an electronic Honest Broker (eHB) and Biorepository Portal (BRP) open source project that, in tandem, allow for data integration while protecting patient privacy. This modular approach allows data and specimens to be associated with a biorepository subject at any time point asynchronously. This lowers the bar to develop new research projects based on scientific merit without institutional review for a proposal. RESULTS:By facilitating the automated de-identification of specimen and associated clinical and genomic data we create a future proofed specimen set that can withstand new workflows and be connected to new associated information over time. Thus facilitating collaborative advanced genomic and tissue research. CONCLUSIONS:As of Janurary of 2016 there are 23 unique protocols/patient cohorts being managed in the Biorepository Portal (BRP). There are over 4000 unique subject records in the electronic honest broker (eHB), over 30,000 specimens accessioned and 8 institutions participating in various biobanking activities using this tool kit. We specifically set out to build rich annotation of biospecimens with longitudinal clinical data; BRP/REDCap integration for multi-institutional repositories; EMR integration; further annotated specimens with genomic data specific to a domain; build application hooks for experiments at the specimen level integrated with analytic software; while protecting privacy per the Office of Civil Rights (OCR) and HIPAA.

journal_name

BMC Genomics

journal_title

BMC genomics

authors

Felmeister AS,Masino AJ,Rivera TJ,Resnick AC,Pennington JW

doi

10.1186/s12864-016-2797-9

subject

Has Abstract

pub_date

2016-08-18 00:00:00

pages

434

issn

1471-2164

pii

10.1186/s12864-016-2797-9

journal_volume

17 Suppl 4

pub_type

杂志文章
  • Maternal effects shape the alternative splicing of parental alleles in reciprocal cross hybrids of Megalobrama amblycephala × Culter alburnus.

    abstract:BACKGROUND:Maternal effects contribute to adaptive significance for shaping various phenotypes of many traits. Potential implications of maternal effects are the cause of expression diversity, but these effects on mRNA expression and alternative splicing (AS) have not been fully elucidated in hybrid animals. RESULTS:T...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-020-06866-7

    authors: Ren L,Yan X,Gao X,Cui J,Yan P,Wu C,Li W,Liu S

    更新日期:2020-07-02 00:00:00

  • Correction to: On the utility of RNA sample pooling to optimize cost and statistical power in RNA sequencing experiments.

    abstract::An amendment to this paper has been published and can be accessed via the original article. ...

    journal_title:BMC genomics

    pub_type: 杂志文章,已发布勘误

    doi:10.1186/s12864-020-6754-2

    authors: Assefa AT,Vandesompele J,Thas O

    更新日期:2020-06-03 00:00:00

  • Comparative proteome analysis of Saccharomyces cerevisiae: a global overview of in vivo targets of the yeast activator protein 1.

    abstract:BACKGROUND:The activity of the yeast activator protein 1 (Yap1p) increases under stress conditions, which leads to enhanced transcription of a number of genes encoding protective enzymes or other proteins. To obtain a global overview of changes in expression of Yap1p-targeted proteins, we compared a Yap1p-overexpressin...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-13-230

    authors: Jun H,Kieselbach T,Jönsson LJ

    更新日期:2012-06-09 00:00:00

  • An integrated approach to characterize transcription factor and microRNA regulatory networks involved in Schwann cell response to peripheral nerve injury.

    abstract:BACKGROUND:The regenerative response of Schwann cells after peripheral nerve injury is a critical process directly related to the pathophysiology of a number of neurodegenerative diseases. This SC injury response is dependent on an intricate gene regulatory program coordinated by a number of transcription factors and m...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-14-84

    authors: Chang LW,Viader A,Varghese N,Payton JE,Milbrandt J,Nagarajan R

    更新日期:2013-02-06 00:00:00

  • The human olfactory transcriptome.

    abstract:BACKGROUND:Olfaction is a versatile sensory mechanism for detecting thousands of volatile odorants. Although molecular basis of odorant signaling is relatively well understood considerable gaps remain in the complete charting of all relevant gene products. To address this challenge, we applied RNAseq to four well-chara...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-016-2960-3

    authors: Olender T,Keydar I,Pinto JM,Tatarskyy P,Alkelai A,Chien MS,Fishilevich S,Restrepo D,Matsunami H,Gilad Y,Lancet D

    更新日期:2016-08-11 00:00:00

  • PNAC: a protein nucleolar association classifier.

    abstract:BACKGROUND:Although primarily known as the site of ribosome subunit production, the nucleolus is involved in numerous and diverse cellular processes. Recent large-scale proteomics projects have identified thousands of human proteins that associate with the nucleolus. However, in most cases, we know neither the fraction...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-12-74

    authors: Scott MS,Boisvert FM,Lamond AI,Barton GJ

    更新日期:2011-01-27 00:00:00

  • Genome-wide association and biological pathway analysis for milk-fat composition in Danish Holstein and Danish Jersey cattle.

    abstract:BACKGROUND:The milk fat profile of the Danish Holstein (DH) and Danish Jersey (DJ) show clear differences. Identification of the genomic regions, genes and biological pathways underlying the milk fat biosynthesis will improve the understanding of the biology underlying bovine milk fat production and may provide new pos...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-15-1112

    authors: Buitenhuis B,Janss LL,Poulsen NA,Larsen LB,Larsen MK,Sørensen P

    更新日期:2014-12-15 00:00:00

  • Comparative analysis of the predicted secretomes of Rosaceae scab pathogens Venturia inaequalis and V. pirina reveals expanded effector families and putative determinants of host range.

    abstract:BACKGROUND:Fungal plant pathogens belonging to the genus Venturia cause damaging scab diseases of members of the Rosaceae. In terms of economic impact, the most important of these are V. inaequalis, which infects apple, and V. pirina, which is a pathogen of European pear. Given that Venturia fungi colonise the sub-cuti...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-017-3699-1

    authors: Deng CH,Plummer KM,Jones DAB,Mesarich CH,Shiller J,Taranto AP,Robinson AJ,Kastner P,Hall NE,Templeton MD,Bowen JK

    更新日期:2017-05-02 00:00:00

  • Exploiting combinatorial cultivation conditions to infer transcriptional regulation.

    abstract:BACKGROUND:Regulatory networks often employ the model that attributes changes in gene expression levels, as observed across different cellular conditions, to changes in the activity of transcription factors (TFs). Although the actual conditions that trigger a change in TF activity should form an integral part of the ge...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-8-25

    authors: Knijnenburg TA,de Winde JH,Daran JM,Daran-Lapujade P,Pronk JT,Reinders MJ,Wessels LF

    更新日期:2007-01-22 00:00:00

  • Differentially expressed genes from RNA-Seq and functional enrichment results are affected by the choice of single-end versus paired-end reads and stranded versus non-stranded protocols.

    abstract:BACKGROUND:RNA-Seq is now widely used as a research tool. Choices must be made whether to use paired-end (PE) or single-end (SE) sequencing, and whether to use strand-specific or non-specific (NS) library preparation kits. To date there has been no analysis of the effect of these choices on identifying differentially e...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-017-3797-0

    authors: Corley SM,MacKenzie KL,Beverdam A,Roddam LF,Wilkins MR

    更新日期:2017-05-23 00:00:00

  • Production and utilization of a high-density oligonucleotide microarray in channel catfish, Ictalurus punctatus.

    abstract:BACKGROUND:Functional analysis of the catfish genome will be useful for the identification of genes controlling traits of economic importance, especially innate disease resistance. However, this species lacks a platform for global gene expression profiling, so we designed a first generation high-density oligonucleotide...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-7-134

    authors: Li RW,Waldbieser GC

    更新日期:2006-06-01 00:00:00

  • Theobroma cacao L. pathogenesis-related gene tandem array members show diverse expression dynamics in response to pathogen colonization.

    abstract:BACKGROUND:The pathogenesis-related (PR) group of proteins are operationally defined as polypeptides that increase in concentration in plant tissues upon contact with a pathogen. To date, 17 classes of highly divergent proteins have been described that act through multiple mechanisms of pathogen resistance. Characteriz...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-016-2693-3

    authors: Fister AS,Mejia LC,Zhang Y,Herre EA,Maximova SN,Guiltinan MJ

    更新日期:2016-05-17 00:00:00

  • σ54-dependent regulome in Desulfovibrio vulgaris Hildenborough.

    abstract:BACKGROUND:The σ(54) subunit controls a unique class of promoters in bacteria. Such promoters, without exception, require enhancer binding proteins (EBPs) for transcription initiation. Desulfovibrio vulgaris Hildenborough, a model bacterium for sulfate reduction studies, has a high number of EBPs, more than most sequen...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-015-2176-y

    authors: Kazakov AE,Rajeev L,Chen A,Luning EG,Dubchak I,Mukhopadhyay A,Novichkov PS

    更新日期:2015-11-10 00:00:00

  • Genome-wide genetic structure and selection signatures for color in 10 traditional Chinese yellow-feathered chicken breeds.

    abstract:BACKGROUND:Yellow-feathered chickens (YFCs) have a long history in China. They are well-known for the nutritional and commercial importance attributable to their yellow color phenotype. Currently, there is a huge paucity in knowledge of the genetic determinants responsible for phenotypic and biochemical properties of t...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-020-6736-4

    authors: Huang X,Otecko NO,Peng M,Weng Z,Li W,Chen J,Zhong M,Zhong F,Jin S,Geng Z,Luo W,He D,Ma C,Han J,Ommeh SC,Zhang Y,Zhang X,Du B

    更新日期:2020-04-20 00:00:00

  • Transcriptome analysis of porcine PBMCs after in vitro stimulation by LPS or PMA/ionomycin using an expression array targeting the pig immune response.

    abstract:BACKGROUND:Designing sustainable animal production systems that better balance productivity and resistance to disease is a major concern. In order to address questions related to immunity and resistance to disease in pig, it is necessary to increase knowledge on its immune system and to produce efficient tools dedicate...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-11-292

    authors: Gao Y,Flori L,Lecardonnel J,Esquerré D,Hu ZL,Teillaud A,Lemonnier G,Lefèvre F,Oswald IP,Rogel-Gaillard C

    更新日期:2010-05-11 00:00:00

  • Comparative genomics of European avian pathogenic E. Coli (APEC).

    abstract:BACKGROUND:Avian pathogenic Escherichia coli (APEC) causes colibacillosis, which results in significant economic losses to the poultry industry worldwide. However, the diversity between isolates remains poorly understood. Here, a total of 272 APEC isolates collected from the United Kingdom (UK), Italy and Germany were ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-016-3289-7

    authors: Cordoni G,Woodward MJ,Wu H,Alanazi M,Wallis T,La Ragione RM

    更新日期:2016-11-22 00:00:00

  • Characteristics and clustering of human ribosomal protein genes.

    abstract:BACKGROUND:The ribosome is a central player in the translation system, which in mammals consists of four RNA species and 79 ribosomal proteins (RPs). The control mechanisms of gene expression and the functions of RPs are believed to be identical. Most RP genes have common promoters and were therefore assumed to have a ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-7-37

    authors: Ishii K,Washio T,Uechi T,Yoshihama M,Kenmochi N,Tomita M

    更新日期:2006-02-28 00:00:00

  • Methods for high-throughput MethylCap-Seq data analysis.

    abstract:BACKGROUND:Advances in whole genome profiling have revolutionized the cancer research field, but at the same time have raised new bioinformatics challenges. For next generation sequencing (NGS), these include data storage, computational costs, sequence processing and alignment, delineating appropriate statistical measu...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-13-S6-S14

    authors: Rodriguez BA,Frankhouser D,Murphy M,Trimarchi M,Tam HH,Curfman J,Huang R,Chan MW,Lai HC,Parikh D,Ball B,Schwind S,Blum W,Marcucci G,Yan P,Bundschuh R

    更新日期:2012-01-01 00:00:00

  • Comparative DNA methylome analysis of endometrial carcinoma reveals complex and distinct deregulation of cancer promoters and enhancers.

    abstract:BACKGROUND:Aberrant DNA methylation is a hallmark of many cancers. Classically there are two types of endometrial cancer, endometrioid adenocarcinoma (EAC), or Type I, and uterine papillary serous carcinoma (UPSC), or Type II. However, the whole genome DNA methylation changes in these two classical types of endometrial...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-15-868

    authors: Zhang B,Xing X,Li J,Lowdon RF,Zhou Y,Lin N,Zhang B,Sundaram V,Chiappinelli KB,Hagemann IS,Mutch DG,Goodfellow PJ,Wang T

    更新日期:2014-10-06 00:00:00

  • Transcriptome analysis of air-breathing land slug, Incilaria fruhstorferi reveals functional insights into growth, immunity, and reproduction.

    abstract:BACKGROUND:Incilaria (= Meghimatium) fruhstorferi is an air-breathing land slug found in restricted habitats of Japan, Taiwan and selected provinces of South Korea (Jeju, Chuncheon, Busan, and Deokjeokdo). The species is on a decline due to depletion of forest cover, predation by natural enemies, and collection. To fac...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-019-5526-3

    authors: Patnaik BB,Chung JM,Hwang HJ,Sang MK,Park JE,Min HR,Cho HC,Dewangan N,Baliarsingh S,Kang SW,Park SY,Jo YH,Park HS,Kim WJ,Han YS,Lee JS,Lee YS

    更新日期:2019-02-26 00:00:00

  • Systemic treatment of xenografts with vaccinia virus GLV-1h68 reveals the immunologic facet of oncolytic therapy.

    abstract:BACKGROUND:GLV-1h68 is an attenuated recombinant vaccinia virus (VACV) that selectively colonizes established human xenografts inducing their complete regression. RESULTS:Here, we explored xenograft/VACV/host interactions in vivo adopting organism-specific expression arrays and tumor cell/VACV in vitro comparing VACV ...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-10-301

    authors: Worschech A,Chen N,Yu YA,Zhang Q,Pos Z,Weibel S,Raab V,Sabatino M,Monaco A,Liu H,Monsurró V,Buller RM,Stroncek DF,Wang E,Szalay AA,Marincola FM

    更新日期:2009-07-07 00:00:00

  • Molecular analysis of the diversity of vaginal microbiota associated with bacterial vaginosis.

    abstract:BACKGROUND:Bacterial vaginosis (BV) is an ecological disorder of the vaginal microbiota that affects millions of women annually, and is associated with numerous adverse health outcomes including pre-term birth and the acquisition of sexually transmitted infections. However, little is known about the overall structure a...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-11-488

    authors: Ling Z,Kong J,Liu F,Zhu H,Chen X,Wang Y,Li L,Nelson KE,Xia Y,Xiang C

    更新日期:2010-09-07 00:00:00

  • Transcriptomic analysis of the lesser spotted catshark (Scyliorhinus canicula) pancreas, liver and brain reveals molecular level conservation of vertebrate pancreas function.

    abstract:BACKGROUND:Understanding the evolution of the vertebrate pancreas is key to understanding its functions. The chondrichthyes (cartilaginous fish such as sharks and rays) have often been suggested to possess the most ancient example of a distinct pancreas with both hormonal (endocrine) and digestive (exocrine) roles. The...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-15-1074

    authors: Mulley JF,Hargreaves AD,Hegarty MJ,Heller RS,Swain MT

    更新日期:2014-12-06 00:00:00

  • The venom composition of the parasitic wasp Chelonus inanitus resolved by combined expressed sequence tags analysis and proteomic approach.

    abstract:BACKGROUND:Parasitic wasps constitute one of the largest group of venomous animals. Although some physiological effects of their venoms are well documented, relatively little is known at the molecular level on the protein composition of these secretions. To identify the majority of the venom proteins of the endoparasit...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-11-693

    authors: Vincent B,Kaeslin M,Roth T,Heller M,Poulain J,Cousserans F,Schaller J,Poirié M,Lanzrein B,Drezen JM,Moreau SJ

    更新日期:2010-12-07 00:00:00

  • Activation of metabolic and stress responses during subtoxic expression of the type I toxin hok in Erwinia amylovora.

    abstract:BACKGROUND:Toxin-antitoxin (TA) systems, abundant in prokaryotes, are composed of a toxin gene and its cognate antitoxin. Several toxins are implied to affect the physiological state and stress tolerance of bacteria in a population. We previously identified a chromosomally encoded hok-sok type I TA system in Erwinia am...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/s12864-021-07376-w

    authors: Peng J,Triplett LR,Sundin GW

    更新日期:2021-01-22 00:00:00

  • Ontology and diversity of transcript-associated microsatellites mined from a globe artichoke EST database.

    abstract:BACKGROUND:The globe artichoke (Cynara cardunculus var. scolymus L.) is a significant crop in the Mediterranean basin. Despite its commercial importance and its both dietary and pharmaceutical value, knowledge of its genetics and genomics remains scant. Microsatellite markers have become a key tool in genetic and genom...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-10-454

    authors: Scaglione D,Acquadro A,Portis E,Taylor CA,Lanteri S,Knapp SJ

    更新日期:2009-09-28 00:00:00

  • Genome-wide structural and evolutionary analysis of the P450 monooxygenase genes (P450ome) in the white rot fungus Phanerochaete chrysosporium: evidence for gene duplications and extensive gene clustering.

    abstract:BACKGROUND:Phanerochaete chrysosporium, the model white rot basidiomycetous fungus, has the extraordinary ability to mineralize (to CO2) lignin and detoxify a variety of chemical pollutants. Its cytochrome P450 monooxygenases have recently been implied in several of these biotransformations. Our initial P450 cloning ef...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-6-92

    authors: Doddapaneni H,Chakraborty R,Yadav JS

    更新日期:2005-06-14 00:00:00

  • The repetitive component of the sunflower genome as shown by different procedures for assembling next generation sequencing reads.

    abstract:BACKGROUND:Next generation sequencing provides a powerful tool to study genome structure in species whose genomes are far from being completely sequenced. In this work we describe and compare different computational approaches to evaluate the repetitive component of the genome of sunflower, by using medium/low coverage...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-14-686

    authors: Natali L,Cossu RM,Barghini E,Giordani T,Buti M,Mascagni F,Morgante M,Gill N,Kane NC,Rieseberg L,Cavallini A

    更新日期:2013-10-06 00:00:00

  • Links between core promoter and basic gene features influence gene expression.

    abstract:BACKGROUND:Diversity in rates of gene expression is essential for basic cell functions and is controlled by a variety of intricate mechanisms. Revealing general mechanisms that control gene expression is important for understanding normal and pathological cell functions and for improving the design of expression system...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-9-92

    authors: Moshonov S,Elfakess R,Golan-Mashiach M,Sinvani H,Dikstein R

    更新日期:2008-02-25 00:00:00

  • Preferred and avoided codon pairs in three domains of life.

    abstract:BACKGROUND:Alternative synonymous codons are not used with equal frequencies. In addition, the contexts of codons - neighboring nucleotides and neighboring codons - can have certain patterns. The codon context can influence both translational accuracy and elongation rates. However, it is not known how strong or conserv...

    journal_title:BMC genomics

    pub_type: 杂志文章

    doi:10.1186/1471-2164-9-463

    authors: Tats A,Tenson T,Remm M

    更新日期:2008-10-08 00:00:00