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https://www.readbyqxmd.com/read/29143663/dirofilaria-immitis-jyd-34-isolate-whole-genome-analysis
#1
Catherine Bourguinat, Francois Lefebvre, Johanna Sandoval, Brenda Bondesen, Yovany Moreno, Roger K Prichard
BACKGROUND: Macrocyclic lactone (ML) anthelmintics are used for chemoprophylaxis for heartworm infection in dogs and cats. Cases of dogs becoming infected with heartworms, despite apparent compliance to recommended chemoprophylaxis with approved preventives, has led to such cases being considered as suspected lack of efficacy (LOE). Recently, microfilariae collected from a small number of LOE isolates were used as a source of infection of new host dogs and confirmed to have reduced susceptibility to ML in controlled efficacy studies using L3 challenge in dogs...
November 9, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/29137603/clustertad-an-unsupervised-machine-learning-approach-to-detecting-topologically-associated-domains-of-chromosomes-from-hi-c-data
#2
Oluwatosin Oluwadare, Jianlin Cheng
BACKGROUND: With the development of chromosomal conformation capturing techniques, particularly, the Hi-C technique, the study of the spatial conformation of a genome is becoming an important topic in bioinformatics and computational biology. The Hi-C technique can generate genome-wide chromosomal interaction (contact) data, which can be used to investigate the higher-level organization of chromosomes, such as Topologically Associated Domains (TAD), i.e., locally packed chromosome regions bounded together by intra chromosomal contacts...
November 14, 2017: BMC Bioinformatics
https://www.readbyqxmd.com/read/29131478/gene-isolation-using-degenerate-primers-targeting-protein-motif-a-laboratory-exercise
#3
Brandon Pei Hui Yeo, Lian Chee Foong, Sheh May Tam, Vivian Lee, Siaw San Hwang
Structures and functions of protein motifs are widely included in many biology-based course syllabi. However, little emphasis is placed to link this knowledge to applications in biotechnology to enhance the learning experience. Here, the conserved motifs of nucleotide binding site-leucine rich repeats (NBS-LRR) proteins, successfully used for the isolation and characterization of many plant resistance gene analogues (RGAs), is featured in the development of a series of laboratory experiments using important molecular biology techniques...
November 13, 2017: Biochemistry and Molecular Biology Education
https://www.readbyqxmd.com/read/29130174/identification-of-ahl-and-bdsf-controlled-proteins-in-burkholderia-cenocepacia-by-proteomics
#4
Yilei Liu, Gabriella Pessi, Katharina Riedel, Leo Eberl
We used comparative proteome analysis to determine the target genes of the two quorum sensing (QS) circuits in the opportunistic pathogen Burkholderia cenocepacia: the N-acyl homoserine lactone (AHL)-based CepIR system and the BDSF (B urkholderia diffusible signal factor, cis-2-dodecenoic acid)-based RpfFR system. In this book chapter, we focus on the description of the practical procedure we currently use in the laboratory to perform a sensitive GeLC-MS/MS shotgun proteomics experiment; we also briefly describe the downstream bioinformatic data analysis...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29112706/nanostringnormcnv-pre-processing-of-nanostring-cnv-data
#5
Dorota H Sendorek, Emilie Lalonde, Cindy Q Yao, Veronica Y Sabelnykova, Robert G Bristow, Paul C Boutros
Summary: The NanoString System is a well-established technology for measuring RNA and DNA abundance. Although it can estimate copy number variation, relatively few tools support analysis of these data. To address this gap, we created NanoStringNormCNV, an R package for pre-processing and copy number variant calling from NanoString data. This package implements algorithms for pre-processing, quality-control, normalization and copy number variation detection. A series of reporting and data visualization methods support exploratory analyses...
November 3, 2017: Bioinformatics
https://www.readbyqxmd.com/read/29110697/exutr-a-novel-pipeline-for-large-scale-prediction-of-3-utr-sequences-from-ngs-data
#6
Zixia Huang, Emma C Teeling
BACKGROUND: The three prime untranslated region (3'-UTR) is known to play a pivotal role in modulating gene expression by determining the fate of mRNA. Many crucial developmental events, such as mammalian spermatogenesis, tissue patterning, sex determination and neurogenesis, rely heavily on post-transcriptional regulation by the 3'-UTR. However, 3'-UTR biology seems to be a relatively untapped field, with only limited tools and 3'-UTR resources available. To elucidate the regulatory mechanisms of the 3'-UTR on gene expression, firstly the 3'-UTR sequences must be identified...
November 6, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29104756/factor-vii-deficiency-a-novel-missense-variant-and-genotype-phenotype-correlation-in-patients-from-southern-italy
#7
Giovanni Tiscia, Giovanni Favuzzi, Elena Chinni, Donatella Colaizzo, Lucia Fischetti, Mariano Intrieri, Maurizio Margaglione, Elvira Grandone
This study aimed at attempting to correlate genotype and phenotype in factor VII deficiency. Here, we present molecular and clinical findings of 10 patients with factor VII deficiency. From 2013 to 2016, 10 subjects were referred to our center because of a prolonged prothrombin time identified during routine or presurgery examinations or after a laboratory assessment of a bleeding episode. Mutation characterization was performed using the bioinformatics applications PROMO, SIFT, and Polyphen-2. Structural changes in the factor VII protein were analyzed using the SPDB viewer tool...
2017: Human Genome Variation
https://www.readbyqxmd.com/read/29101892/performance-evaluation-of-a-mitogenome-capture-and-illumina-sequencing-protocol-using-non-probative-case-type-skeletal-samples-implications-for-the-use-of-a-positive-control-in-a-next-generation-sequencing-procedure
#8
Charla Marshall, Kimberly Sturk-Andreaggi, Jennifer Daniels-Higginbotham, Robert Sean Oliver, Suzanne Barritt-Ross, Timothy P McMahon
Next-generation ancient DNA technologies have the potential to assist in the analysis of degraded DNA extracted from forensic specimens. Mitochondrial genome (mitogenome) sequencing, specifically, may be of benefit to samples that fail to yield forensically relevant genetic information using conventional PCR-based techniques. This report summarizes the Armed Forces Medical Examiner System's Armed Forces DNA Identification Laboratory's (AFMES-AFDIL) performance evaluation of a Next-Generation Sequencing protocol for degraded and chemically treated past accounting samples...
September 8, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29095940/expressiondb-an-open-source-platform-for-distributing-genome-scale-datasets
#9
Laura D Hughes, Scott A Lewis, Michael E Hughes
RNA-sequencing (RNA-seq) and microarrays are methods for measuring gene expression across the entire transcriptome. Recent advances have made these techniques practical and affordable for essentially any laboratory with experience in molecular biology. A variety of computational methods have been developed to decrease the amount of bioinformatics expertise necessary to analyze these data. Nevertheless, many barriers persist which discourage new labs from using functional genomics approaches. Since high-quality gene expression studies have enduring value as resources to the entire research community, it is of particular importance that small labs have the capacity to share their analyzed datasets with the research community...
2017: PloS One
https://www.readbyqxmd.com/read/29092073/reproducible-bioconductor-workflows-using-browser-based-interactive-notebooks-and-containers
#10
Reem Almugbel, Ling-Hong Hung, Jiaming Hu, Abeer Almutairy, Nicole Ortogero, Yashaswi Tamta, Ka Yee Yeung
Objective: Bioinformatics publications typically include complex software workflows that are difficult to describe in a manuscript. We describe and demonstrate the use of interactive software notebooks to document and distribute bioinformatics research. We provide a user-friendly tool, BiocImageBuilder, that allows users to easily distribute their bioinformatics protocols through interactive notebooks uploaded to either a GitHub repository or a private server. Materials and methods: We present four different interactive Jupyter notebooks using R and Bioconductor workflows to infer differential gene expression, analyze cross-platform datasets, process RNA-seq data and KinomeScan data...
October 28, 2017: Journal of the American Medical Informatics Association: JAMIA
https://www.readbyqxmd.com/read/29080494/aqme-a-forensic-mitochondrial-dna-analysis-tool-for-next-generation-sequencing-data
#11
Kimberly Sturk-Andreaggi, Michelle A Peck, Cecilie Boysen, Patrick Dekker, Timothy P McMahon, Charla K Marshall
The feasibility of generating mitochondrial DNA (mtDNA) data has expanded considerably with the advent of next-generation sequencing (NGS), specifically in the generation of entire mtDNA genome (mitogenome) sequences. However, the analysis of these data has emerged as the greatest challenge to implementation in forensics. To address this need, a custom toolkit for use in the CLC Genomics Workbench (QIAGEN, Hilden, Germany) was developed through a collaborative effort between the Armed Forces Medical Examiner System - Armed Forces DNA Identification Laboratory (AFMES-AFDIL) and QIAGEN Bioinformatics...
September 19, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/29077806/quark-enables-semi-reference-based-compression-of-rna-seq-data
#12
Hirak Sarkar, Rob Patro
Motivation: The past decade has seen an exponential increase in biological sequencing capacity, and there has been a simultaneous effort to help organize and archive some of the vast quantities of sequencing data that are being generated. Although these developments are tremendous from the perspective of maximizing the scientific utility of available data, they come with heavy costs. The storage and transmission of such vast amounts of sequencing data is expensive. Results: We present Quark, a semi-reference-based compression tool designed for RNA-seq data...
November 1, 2017: Bioinformatics
https://www.readbyqxmd.com/read/29069297/seqbox-rnaseq-chipseq-reproducible-analysis-on-a-consumer-game-computer
#13
Marco Beccuti, Francesca Cordero, Maddalena Arigoni, Riccardo Panero, Elvio G Amparore, Susanna Donatelli, Raffaele A Calogero
Summary: Short reads sequencing technology has been used for more than a decade now. However, the analysis of RNAseq and ChIPseq data is still computational demanding and the simple access to raw data does not guarantee results reproducibility between laboratories. To address these two aspects, we developed SeqBox, a cheap, efficient and reproducible RNAseq/ChIPseq hardware/software solution based on NUC6I7KYK mini-PC (an Intel consumer game computer with a fast processor and a high performance SSD disk), and Docker container platform...
October 23, 2017: Bioinformatics
https://www.readbyqxmd.com/read/29061171/use-of-a-bioinformatic-assisted-primer-design-strategy-to-establish-a-new-nested-pcr-based-method-for-cryptosporidium
#14
Anson V Koehler, Pasi K Korhonen, Ross S Hall, Neil D Young, Tao Wang, Shane R Haydon, Robin B Gasser
BACKGROUND: The accurate tracking of Cryptosporidium in faecal, water and/or soil samples in water catchment areas is central to developing strategies to manage the potential risk of cryptosporidiosis transmission to humans. Various PCR assays are used for this purpose. Although some assays achieve specific amplification from Cryptosporidium DNA in animal faecal samples, some do not. Indeed, we have observed non-specificity of some oligonucleotide primers in the small subunit of nuclear ribosomal RNA gene (SSU), which has presented an obstacle to the identification and classification of Cryptosporidium species and genotypes (taxa) from faecal samples...
October 23, 2017: Parasites & Vectors
https://www.readbyqxmd.com/read/29058705/identification-of-a-gene-expression-signature-associated-with-the-metastasis-suppressor-function-of-nme1-prognostic-value-in-human-melanoma
#15
M Kathryn Leonard, Joseph R McCorkle, Devin E Snyder, Marian Novak, Qingbei Zhang, Amol C Shetty, Anup A Mahurkar, David M Kaetzel
Although NME1 is well known for its ability to suppress metastasis of melanoma, the molecular mechanisms underlying this activity are not completely understood. Herein, we utilized a bioinformatics approach to systematically identify genes whose expression is correlated with the metastasis suppressor function of NME1. This was accomplished through a search for genes that were regulated by NME1, but not by NME1 variants lacking metastasis suppressor activity. This approach identified a number of novel genes, such as ALDOC, CXCL11, LRP1b, and XAGE1 as well as known targets such as NETO2, which were collectively designated as an NME1-Regulated Metastasis Suppressor Signature (MSS)...
October 23, 2017: Laboratory Investigation; a Journal of Technical Methods and Pathology
https://www.readbyqxmd.com/read/29052183/profiling-dna-methylation-using-bisulfite-sequencing-bs-seq
#16
Yun-Ru Chen, Sheng Yu, Silin Zhong
DNA cytosine methylation is one of the most abundant epigenetic marks found in the plant nuclear genome. Bisulfite sequencing (BS-Seq) is the method of choice for profiling DNA cytosine methylation genome-wide at a single nucleotide resolution. The basis of this technique is that the unmethylated cytosine can be deaminated to uracil by sodium bisulfite, while the methylated cytosine is resistant to the treatment. By deep sequencing of the bisulfite converted genomic DNA, the methylation level of each mappable cytosine position in the genome could be measured...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29048882/collaborating-with-undergraduates-to-contribute-to-biochemistry-community-resources
#17
Kathryn L Haas, Jennifer M Heemstra, Marnix H Medema, Louise K Charkoudian
Course-based undergraduate research experiences (CUREs) have gained traction as effective ways to expand the impact of undergraduate research while fulfilling pedagogical goals. In this Perspective, we present innovative ways to incorporate fundamental benefits and principles of CUREs into a classroom environment through information/technology-based research projects that lead to student-generated contributions to digital community resources (CoRes). These projects represent an attractive class of CUREs because they are less resource-intensive than laboratory-based CUREs, and the projects align with the expectations of today's students to create rapid and publicly accessible contributions to society...
November 2, 2017: Biochemistry
https://www.readbyqxmd.com/read/29036643/glass-assisted-and-standardized-assessment-of-gene-variations-from-sanger-sequence-trace-data
#18
Karol Pal, Vojtech Bystry, Tomas Reigl, Martin Demko, Adam Krejci, Tasoula Touloumenidou, Evangelia Stalika, Boris Tichy, Paolo Ghia, Kostas Stamatopoulos, Sarka Pospisilova, Jitka Malcikova, Nikos Darzentas
Motivation: Sanger sequencing is still being employed for sequence variant detection by many laboratories, especially in a clinical setting. However, chromatogram interpretation often requires manual inspection and in some cases, considerable expertise. Results: We present GLASS, a web-based Sanger sequence trace viewer, editor, aligner and variant caller, built to assist with the assessment of variations in 'curated' or user-provided genes. Critically, it produces a standardized variant output as recommended by the Human Genome Variation Society...
July 13, 2017: Bioinformatics
https://www.readbyqxmd.com/read/29036597/faucet-streaming-de-novo-assembly-graph-construction
#19
Roye Rozov, Gil Goldshlager, Eran Halperin, Ron Shamir
Motivation: We present Faucet, a two-pass streaming algorithm for assembly graph construction. Faucet builds an assembly graph incrementally as each read is processed. Thus, reads need not be stored locally, as they can be processed while downloading data and then discarded. We demonstrate this functionality by performing streaming graph assembly of publicly available data, and observe that the ratio of disk use to raw data size decreases as coverage is increased. Results: Faucet pairs the de Bruijn graph obtained from the reads with additional meta-data derived from them...
July 24, 2017: Bioinformatics
https://www.readbyqxmd.com/read/29036440/analysis-and-prediction-of-protein-folding-energy-changes-upon-mutation-by-element-specific-persistent-homology
#20
Zixuan Cang, Guo-Wei Wei
Motivation: Site directed mutagenesis is widely used to understand the structure and function of biomolecules. Computational prediction of mutation impacts on protein stability offers a fast, economical and potentially accurate alternative to laboratory mutagenesis. Most existing methods rely on geometric descriptions, this work introduces a topology based approach to provide an entirely new representation of mutation induced protein stability changes that could not be obtained from conventional techniques...
November 15, 2017: Bioinformatics
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