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https://www.readbyqxmd.com/read/28330108/identification-of-novel-snps-in-differentially-expressed-genes-and-its-association-with-horn-cancer-of-bos-indicus-bullocks-by-next-generation-sequencing
#1
P G Koringa, S J Jakhesara, D N Rank, C G Joshi
The use of polymorphic markers like SNPs promises to provide comprehensive tool for analysing genome and identifying genomic regions that contribute to cancer phenotype. Horn cancer is the most common cancer among Bos indicus animals. Increased expression of some genes due to polymorphisms increases risk of HC incidence. We successfully amplified 91 SNPs located in 69 genes in 52 samples, each of HC and HN. Equimolar concentration of amplicons from 69 PCR products of each sample was pooled and subjected to sequencing using Ion Torrent PGM...
June 2016: 3 Biotech
https://www.readbyqxmd.com/read/28302057/clinically-proven-mtdna-mutations-are-not-common-in-those-with-chronic-fatigue-syndrome
#2
Elizna M Schoeman, Francois H Van Der Westhuizen, Elardus Erasmus, Etresia van Dyk, Charlotte V Y Knowles, Shereen Al-Ali, Wan-Fai Ng, Robert W Taylor, Julia L Newton, Joanna L Elson
BACKGROUND: Chronic Fatigue Syndrome (CFS) is a prevalent debilitating condition that affects approximately 250,000 people in the UK. There is growing interest in the role of mitochondrial function and mitochondrial DNA (mtDNA) variation in CFS. It is now known that fatigue is common and often severe in patients with mitochondrial disease irrespective of their age, gender or mtDNA genotype. More recently, it has been suggested that some CFS patients harbour clinically proven mtDNA mutations...
March 16, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28292978/validating-a-fully-automated-real-time-pcr-based-system-for-use-in-the-molecular-diagnostic-analysis-of-colorectal-carcinoma-a-comparison-with-ngs-and-ihc
#3
Richard Colling, Lai Mun Wang, Elizabeth Soilleux
BACKGROUND: Molecular testing is increasingly needed in colorectal carcinoma (CRC) and the current clinically relevant mutations are in BRAF, KRAS and NRAS. This study aimed to further validate a new alternative polymerase chain reaction (PCR) platform (Idylla, Biocartis) against existing next-generation sequencing (NGS) and immunohistochemistry (IHC) assays. METHODS: 56 Idylla tests were performed on 43 CRC cases, in a total of 74 comparisons against an NGS panel (Ion Torrent) and the VE1 (anti-BRAF) antibody IHC...
March 14, 2017: Journal of Clinical Pathology
https://www.readbyqxmd.com/read/28288198/risk-for-molecular-contamination-of-tissue-samples-evaluated-for-targeted-anti-cancer-therapy
#4
Eyal Asor, Michael Y Stav, Einav Simon, Ibrahim Fahoum, Edmond Sabo, Ofer Ben-Izhak, Dov Hershkovitz
With the increasing usage of sensitive PCR technology for pharmacogenetics, cross contamination becomes a significant concern. Researchers employed techniques which basically include replacing laboratory equipment after each sample preparation; however, there are no recommended guidelines. In the present work we wanted to evaluate the risk of cross contamination during tissue processing using the routine precaution measures. Twenty-one surgical samples of lung adenocarcinoma were used, of which 7 contained EGFR exon 19 mutation, 7 contained EGFR exon 21 mutation (p...
2017: PloS One
https://www.readbyqxmd.com/read/28287381/a-preliminary-evaluation-of-next-generation-sequencing-as-a-screening-tool-for-targeted-genotyping-of-erythrocyte-and-platelet-antigens-in-blood-donors
#5
Agnieszka Orzińska, Katarzyna Guz, Michał Mikula, Maria Kulecka, Anna Kluska, Aneta Balabas, Monika Pelc-Kłopotowska, Jerzy Ostrowski, Ewa Brojer
BACKGROUND: Matching the compatibility of donor blood with the recipient's antigens prevents alloimmunisation. Next-generation sequencing (NGS) technology is a promising method for extensive blood group and platelet antigen genotyping of blood donors. It circumvents the limitations of detecting known alleles based on predefined polymorphisms and enables targeted sequencing on a massive scale. The aim of this study was to evaluate the NGS AmpliSeq application on the Ion Torrent platform as a screening tool for genotyping blood donors' erythrocyte/platelet antigens...
March 10, 2017: Blood Transfusion, Trasfusione del Sangue
https://www.readbyqxmd.com/read/28286497/fine-flounder-paralichthys-adspersus-microbiome-showed-important-differences-between-wild-and-reared-specimens
#6
Carolina Ramírez, Jaime Romero
The intestinal microbiota is involved in a wide range of biological processes that benefit the host, including providing nutrition and modulating the immune system. Fine flounder (Paralichthys adspersus) is a flatfish of commercial interest that is native to the Chilean coast. The high value of this flatfish has prompted the development of stock enhancement and aquaculture activities. Knowledge of microbiota may help to improve the cultivation of this species; however, few comparative studies have evaluated the intestinal microbiota composition in farmed versus wild fishes...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28279756/analysis-of-ccr5-gene-polymorphisms-in-321-healthy-saudis-using-next-generation-sequencing
#7
Mohammed A Al Balwi, Ali I Hadadi, Wardah Alharbi, Mariam Ballow, Abdulrahman AlAsiri, Abdulkareem AlAbdulrahman, Udayaraja G K, Mohammed Aldrees, Ibrahim AlAbdulkareem, Ali H Hajeer
AIMS: To investigate the extent of CCR5 polymorphism in the healthy Saudi population. METHOD: A total of 321 healthy Saudi individuals were sequenced using the ion Ampliseq™ Exome kit (Life Technologies, USA) on genomic DNA following manufacturer's protocol. Whole Exome Sequencing (WES) reads were aligned to the human reference genome (hg19 build) with Torrent Suite Software (v5.0.2) and the variants were called using the Torrent Variant Caller plugin (v5.0) and imported into Ion Reporter Server (v5...
March 7, 2017: Human Immunology
https://www.readbyqxmd.com/read/28279176/palb2-mutations-in-brca1-2-mutation-negative-breast-and-ovarian-cancer-patients-from-poland
#8
Anna Kluska, Aneta Balabas, Magdalena Piatkowska, Katarzyna Czarny, Katarzyna Paczkowska, Dorota Nowakowska, Michal Mikula, Jerzy Ostrowski
BACKGROUND: The PALB2 gene encodes a protein that plays a crucial role in maintaining genomic integrity. Germline inactivating mutations in PALB2 are associated with an increased risk of breast and ovarian cancer. The prevalence and spectrum of recurrent PALB2 germline mutations in breast and ovarian cancer patients from Poland is not clearly defined. METHODS: PALB2 exons were amplified from 460 BRCA1/2-mutation negative women with familial breast and/or ovarian cancer and early-onset breast cancer using AmpliSeq technology and sequenced on an Ion Torrent PGM sequencer...
March 9, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28273506/evaluation-of-the-precision-id-ancestry-panel-for-crime-case-work-a-snp-typing-assay-developed-for-typing-of-165-ancestral-informative-markers
#9
Vania Pereira, Helle S Mogensen, Claus Børsting, Niels Morling
The application of massive parallel sequencing (MPS) methodologies in forensic genetics is promising and it is gradually being implemented in forensic genetic case work. One of the major advantages of these technologies is that several traditional electrophoresis assays can be combined into one single MPS assay. This reduces both the amount of sample used and the time of the investigations. This study assessed the utility of the Precision ID Ancestry Panel (Thermo Fisher Scientific, Waltham, USA) in forensic genetics...
February 24, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28272845/accuracy-of-next-generation-sequencing-for-the-identification-of-clinically-relevant-variants-in-cytology-smears-in-lung-adenocarcinoma
#10
Jordan E Baum, Pan Zhang, Rana S Hoda, Brian Geraghty, Hanna Rennert, Navneet Narula, Helen D Fernandes
BACKGROUND: Minimally invasive diagnostic procedures such as needle-core biopsy and fine-needle aspiration provide adequate material for molecular analyses. Advances in precision oncology are trending toward the interrogation of limited amounts of genomic material to guide clinical and therapeutic decisions. The aim of this study was to investigate the minimum cellularity needed on cytologic smears for the identification of clinically relevant variants with next-generation sequencing (NGS)...
March 8, 2017: Cancer
https://www.readbyqxmd.com/read/28263838/evaluation-of-the-ion-torrent-pgm-sequencing-workflow-for-the-routine-rapid-detection-of-brca1-and-brca2-germline-mutations
#11
Isabella Zanella, Francesca Merola, Giorgio Biasiotto, Silvana Archetti, Elide Spinelli, Diego Di Lorenzo
PURPOSE: Conventional methods used to identify BRCA1/2 germline mutations in hereditary cancers are time-consuming and expensive, due to the large size of the genes. The recent introduction of next generation sequencing (NGS) benchtop platforms is a great promise, which is rapidly revolutionizing genetic screening in diagnostic and clinical applications. We recently transferred our methodology for routine BRCA1/2 mutation screening (denaturing High Performance Liquid Chromatography plus Sanger sequencing) to the Ion Torrent PGM platform with the Ion Ampliseq BRCA1 and BRCA2 panel and tested the performance of the system...
March 2, 2017: Experimental and Molecular Pathology
https://www.readbyqxmd.com/read/28261190/fungal-its1-deep-sequencing-strategies-to-reconstruct-the-composition-of-a-26-species-community-and-evaluation-of-the-gut-mycobiota-of-healthy-japanese-individuals
#12
Daisuke Motooka, Kosuke Fujimoto, Reiko Tanaka, Takashi Yaguchi, Kazuyoshi Gotoh, Yuichi Maeda, Yoki Furuta, Takashi Kurakawa, Naohisa Goto, Teruo Yasunaga, Masashi Narazaki, Atsushi Kumanogoh, Toshihiro Horii, Tetsuya Iida, Kiyoshi Takeda, Shota Nakamura
The study of mycobiota remains relatively unexplored due to the lack of sufficient available reference strains and databases compared to those of bacterial microbiome studies. Deep sequencing of Internal Transcribed Spacer (ITS) regions is the de facto standard for fungal diversity analysis. However, results are often biased because of the wide variety of sequence lengths in the ITS regions and the complexity of high-throughput sequencing (HTS) technologies. In this study, a curated ITS database, ntF-ITS1, was constructed...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28249050/exploring-gastric-bacterial-community-in-young-pigs
#13
Vincenzo Motta, Paolo Trevisi, Francesca Bertolini, Anisa Ribani, Giuseppina Schiavo, Luca Fontanesi, Paolo Bosi
Microbiota plays an important role in the homeostasis of the gastrointestinal tract. Understanding the variations of the commensal microbiota composition is crucial for a more efficient control of enteric infectious diseases and for the reduction of the use of antibiotics in animal production, which are the main points of interest for improved animal healthcare and welfare and for consumer health protection. Even though the intestinal microbiota has been extensively studied, little is known about the gastric microbiota...
2017: PloS One
https://www.readbyqxmd.com/read/28248920/genome-wide-barcoded-transposon-screen-for-cancer-drug-sensitivity-in-haploid-mouse-embryonic-stem-cells
#14
Stephen J Pettitt, Dragomir B Krastev, Helen N Pemberton, Yari Fontebasso, Jessica Frankum, Farah L Rehman, Rachel Brough, Feifei Song, Ilirjana Bajrami, Rumana Rafiq, Fredrik Wallberg, Iwanka Kozarewa, Kerry Fenwick, Javier Armisen-Garrido, Amanda Swain, Aditi Gulati, James Campbell, Alan Ashworth, Christopher J Lord
We describe a screen for cellular response to drugs that makes use of haploid embryonic stem cells. We generated ten libraries of mutants with piggyBac gene trap transposon integrations, totalling approximately 100,000 mutant clones. Random barcode sequences were inserted into the transposon vector to allow the number of cells bearing each insertion to be measured by amplifying and sequencing the barcodes. These barcodes were associated with their integration sites by inverse PCR. We exposed these libraries to commonly used cancer drugs and profiled changes in barcode abundance by Ion Torrent sequencing in order to identify mutations that conferred sensitivity...
March 1, 2017: Scientific Data
https://www.readbyqxmd.com/read/28246447/transcriptomic-comparison-of-primary-bovine-horn-core-carcinoma-culture-and-parental-tissue-at-early-stage
#15
Sharadindu Shil, R S Joshi, C G Joshi, A K Patel, Ravi K Shah, Namrata Patel, Subhash J Jakhesara, Sumana Kundu, Bhaskar Reddy, P G Koringa, D N Rank
AIM: Squamous cell carcinoma or SCC of horn in bovines (bovine horn core carcinoma) frequently observed in Bos indicus affecting almost 1% of cattle population. Freshly isolated primary epithelial cells may be closely related to the malignant epithelial cells of the tumor. Comparison of gene expression in between horn's SCC tissue and its early passage primary culture using next generation sequencing was the aim of this study. MATERIALS AND METHODS: Whole transcriptome sequencing of horn's SCC tissue and its early passage cells using Ion Torrent PGM were done...
January 2017: Veterinary World
https://www.readbyqxmd.com/read/28246035/functional-gene-profiling-through-metarnaseq-approach-reveals-diet-dependent-variation-in-rumen-microbiota-of-buffalo-bubalus-bubalis
#16
Ankit T Hinsu, Nidhi R Parmar, Neelam M Nathani, Ramesh J Pandit, Anand B Patel, Amrutlal K Patel, Chaitanya G Joshi
Recent advances in next generation sequencing technology have enabled analysis of complex microbial community from genome to transcriptome level. In the present study, metatranscriptomic approach was applied to elucidate functionally active bacteria and their biological processes in rumen of buffalo (Bubalus bubalis) adapted to different dietary treatments. Buffaloes were adapted to a diet containing 50:50, 75:25 and 100:0 forage to concentrate ratio, each for 6 weeks, before ruminal content sample collection...
February 27, 2017: Anaerobe
https://www.readbyqxmd.com/read/28244283/entire-mitochondrial-dna-sequencing-on-massively-parallel-sequencing-for-the-korean-population
#17
Sohyung Park, Sohee Cho, Hee Jin Seo, Ji Hyun Lee, Moon Young Kim, Soong Deok Lee
Mitochondrial DNA (mtDNA) genome analysis has been a potent tool in forensic practice as well as in the understanding of human phylogeny in the maternal lineage. The traditional mtDNA analysis is focused on the control region, but the introduction of massive parallel sequencing (MPS) has made the typing of the entire mtDNA genome (mtGenome) more accessible for routine analysis. The complete mtDNA information can provide large amounts of novel genetic data for diverse populations as well as improved discrimination power for identification...
April 2017: Journal of Korean Medical Science
https://www.readbyqxmd.com/read/28228119/genetic-variation-of-the-toll-like-receptors-in-a-swedish-allergic-rhinitis-case-population
#18
V Henmyr, D Carlberg, E Manderstedt, C Lind-Halldén, T Säll, L O Cardell, C Halldén
BACKGROUND: Variation in the 10 toll-like receptor (TLR) genes has been significantly associated with allergic rhinitis (AR) in several candidate gene studies and three large genome-wide association studies. These have all investigated common variants, but no investigations for rare variants (MAF ≤ 1%) have been made in AR. The present study aims to describe the genetic variation of the promoter and coding sequences of the 10 TLR genes in 288 AR patients. METHODS: Sanger sequencing and Ion Torrent next-generation sequencing was used to identify polymorphisms in a Swedish AR population and these were subsequently compared and evaluated using 1000Genomes and Exome Aggregation Consortium (ExAC) data...
February 23, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28222155/glm-based-optimization-of-ngs-data-analysis-a-case-study-of-roche-454-ion-torrent-pgm-and-illumina-nextseq-sequencing-data
#19
Sarah Sandmann, Aniek O de Graaf, Bert A van der Reijden, Joop H Jansen, Martin Dugas
BACKGROUND: There are various next-generation sequencing techniques, all of them striving to replace Sanger sequencing as the gold standard. However, false positive calls of single nucleotide variants and especially indels are a widely known problem of basically all sequencing platforms. METHODS: We considered three common next-generation sequencers-Roche 454, Ion Torrent PGM and Illumina NextSeq-and applied standard as well as optimized variant calling pipelines...
2017: PloS One
https://www.readbyqxmd.com/read/28207930/elevation-of-glycosaminoglycans-in-the-amniotic-fluid-of-a-fetus-with-mucopolysaccharidosis-vii
#20
Francyne Kubaski, Ana Carolina Brusius-Facchin, Robert W Mason, Pravin Patel, Maira G Burin, Kristiane Michelin-Tirelli, Rejane Gus Kessler, Fernanda Bender, Sandra Leistner-Segal, Carolina A Moreno, Denise P Cavalcanti, Roberto Giugliani, Shunji Tomatsu
OBJECTIVE: The aim of this study was to quantify GAGs in amniotic fluid (AF) from an MPS VII fetus compared with age-matched fetuses obtained from normal pregnancies. METHOD: Disaccharides were measured by liquid chromatography tandem mass spectrometry (LC/MS/MS), compared to age-matched controls. Enzyme assay was performed in AF supernatant or cultured amniocytes. GUSB was analyzed by next generation sequencing using Ion Torrent Personal Genome Machine with a customized panel...
February 16, 2017: Prenatal Diagnosis
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