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https://www.readbyqxmd.com/read/29302837/up-regulated-pro-inflammatory-micrornas-mirnas-in-alzheimer-s-disease-ad-and-age-related-macular-degeneration-amd
#1
Aileen I Pogue, Walter J Lukiw
Alzheimer's disease (AD) of the brain neocortex and age-related macular degeneration (AMD) of the retina are two complex neurodegenerative disorders, which (i) involve the progressive dysregulation and deterioration of multiple neurobiological signaling pathways, (ii) exhibit the temporal accumulation of pro-inflammatory lesions including the amyloid beta (Aβ) peptide-containing senile plaques of AD and the drusen of AMD, and (iii) culminate in an insidious inflammatory neurodegeneration ending, respectively, in neural cell atrophy and death and progressive loss of cognition and central visual function...
January 4, 2018: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/29229775/molecular-characterization-of-dxcf-cyanobacteriochromes-from-the-cyanobacterium-acaryochloris-marina-identifies-a-blue-light-power-sensor
#2
Masumi Hasegawa, Keiji Fushimi, Keita Miyake, Takahiro Nakajima, Yuki Oikawa, Gen Enomoto, Moritoshi Sato, Masahiko Ikeuchi, Rei Narikawa
Cyanobacteriochromes (CBCRs) are linear tetrapyrrole-binding photoreceptors that sense a wide range of wavelengths from ultraviolet to far-red. The primary photoreaction in these reactions is a Z/E isomerization of the double bond between rings C and D. After this isomerization, various color-tuning events establish distinct spectral properties of the CBCRs. Among the various CBCRs, the DXCF CBCR lineage is widely distributed among cyanobacteria. Because the DXCF CBCRs from the cyanobacterium Acaryochloris marina vary widely in sequence, we focused on these CBCRs in this study...
December 11, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29193904/somatic-mosaicism-of-an-intragenic-fancb-duplication-in-both-fibroblast-and-peripheral-blood-cells-observed-in-a-fanconi-anemia-patient-leads-to-milder-phenotype
#3
Rajalakshmi S Asur, Danielle C Kimble, Francis P Lach, Moonjung Jung, Frank X Donovan, Aparna Kamat, Raymond J Noonan, James W Thomas, Morgan Park, Peter Chines, Adrianna Vlachos, Arleen D Auerbach, Agata Smogorzewska, Settara C Chandrasekharappa
BACKGROUND: Fanconi anemia (FA) is a rare disorder characterized by congenital malformations, progressive bone marrow failure, and predisposition to cancer. Patients harboring X-linked FANCB pathogenic variants usually present with severe congenital malformations resembling VACTERL syndrome with hydrocephalus. METHODS: We employed the diepoxybutane (DEB) test for FA diagnosis, arrayCGH for detection of duplication, targeted capture and next-gen sequencing for defining the duplication breakpoint, PacBio sequencing of full-length FANCB aberrant transcript, FANCD2 ubiquitination and foci formation assays for the evaluation of FANCB protein function by viral transduction of FANCB-null cells with lentiviral FANCB WT and mutant expression constructs, and droplet digital PCR for quantitation of the duplication in the genomic DNA and cDNA...
November 30, 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/29133595/targeted-next-gen-sequencing-for-detecting-mll-gene-fusions-in-leukemia
#4
Sadia Afrin, Christine Rc Zhang, Claus Meyer, Caedyn L Stinson, Thy Pham, Timothy Jc Bruxner, Nicola C Venn, Toby N Trahair, Rosemary Sutton, Rolf Marschalek, J Lynn Fink, Andrew S Moore
Mixed Lineage Leukemia (MLL) gene rearrangements characterize approximately 70% of infant and 10% of adult and therapy-related leukemia. Conventional clinical diagnostics, including cytogenetics and fluorescence in situ hybridization (FISH) fail to detect MLL translocation partner genes (TPGs) in many patients. Long-Distance Inverse (LDI)-PCR, the 'gold standard' technique that is used to characterize MLL breakpoints is laborious and requires a large input of genomic DNA (gDNA). To overcome the limitations of current techniques, a targeted Next-Generation Sequencing (NGS) approach that requires low RNA input was tested...
November 13, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/29122352/microbial-community-response-to-silver-nanoparticles-and-ag-in-nitrifying-activated-sludge-revealed-by-ion-semiconductor-sequencing
#5
Carley A Gwin, Emilie Lefevre, Christina L Alito, Claudia K Gunsch
Silver nanoparticles (AgNPs), which are known to act as biocides, are incorporated into medical and consumer products including athletic clothing, stuffed animals, liquid dietary supplements, and more. The increasing use of AgNPs in these products is likely to lead to their entry into both natural and engineered systems, which has the potential to disrupt bacterial processes including those involved in nutrient cycling in wastewater treatment. In the present study, sequencing batch reactors (SBR) mimicking secondary wastewater treatment were operated to determine the effects of AgNPs on the microbial communities contained within activated sludge of wastewater treatment plants (WWTP)...
November 6, 2017: Science of the Total Environment
https://www.readbyqxmd.com/read/29106607/rnomics-of-thermus-themophilus-hb8-by-dna-microarray-and-next-generation-sequencing
#6
Gota Kawai, Yuri Aoki, Maina Otsu, Naomi Koike, Gen-Ichi Sampei
By using the data obtained by the DNA microarray analysis for the intergenic regions applied to RNA samples extracted from Thermus thermophilus HB8, seven small non-coding RNAs, TtR-1 to TtR-7, were found to be expressed in the cells growing in rich and/or minimal media. By analysing the time course of the expression for the cell growth in combination with the sequence comparison to the known RNAs, two RNAs, TtR-1 and TtR-2, are suggested to be riboswitches. The existence of the seven RNAs and the exact sequence and length, ranging 77-284 nt, were confirmed by the next-generation sequencing...
July 4, 2017: Journal of Biochemistry
https://www.readbyqxmd.com/read/28888469/cut-and-paste-efficient-homology-directed-repair-of-a-dominant-negative-krt14-mutation-via-crispr-cas9-nickases
#7
Thomas Kocher, Patricia Peking, Alfred Klausegger, Eva Maria Murauer, Josefina Piñón Hofbauer, Verena Wally, Thomas Lettner, Stefan Hainzl, Michael Ablinger, Johann Wolfgang Bauer, Julia Reichelt, Ulrich Koller
With the ability to induce rapid and efficient repair of disease-causing mutations, CRISPR/Cas9 technology is ideally suited for gene therapy approaches for recessively and dominantly inherited monogenic disorders. In this study, we have corrected a causal hotspot mutation in exon 6 of the keratin 14 gene (KRT14) that results in generalized severe epidermolysis bullosa simplex (EBS-gen sev), using a double-nicking strategy targeting intron 7, followed by homology-directed repair (HDR). Co-delivery into EBS keratinocytes of a Cas9 D10A nickase (Cas9n), a predicted single guide RNA pair specific for intron 7, and a minicircle donor vector harboring the homology donor template resulted in a recombination efficiency of >30% and correction of the mutant KRT14 allele...
November 1, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28706301/a-haystack-heuristic-for-autoimmune-disease-biomarker-discovery-using-next-gen-immune-repertoire-sequencing-data
#8
Leonard Apeltsin, Shengzhi Wang, H-Christian von Büdingen, Marina Sirota
Large-scale DNA sequencing of immunological repertoires offers an opportunity for the discovery of novel biomarkers for autoimmune disease. Available bioinformatics techniques however, are not adequately suited for elucidating possible biomarker candidates from within large immunosequencing datasets due to unsatisfactory scalability and sensitivity. Here, we present the Haystack Heuristic, an algorithm customized to computationally extract disease-associated motifs from next-generation-sequenced repertoires by contrasting disease and healthy subjects...
July 13, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28688118/a-pair-of-dicer1-positive-monozygotic-twins-one-with-pleuropulmonary-blastoma-another-with-acute-transient-hepatitis
#9
Sihui Li, Siyu Cai, Xisi Wang, Dawei Zhang, Libing Fu, Qi Zeng, Xiaoxia Peng, Xiaoli Ma
Pleuropulmonary blastoma (PPB) is the most common primary malignant neoplasm of the lung in children that is associated with a germline mutation in DICER1. In this report, we share an interesting case of a pair of monozygotic twins: one of them developed PPB when she was 4-year old, while the other developed acute transient hepatitis when she was 5-year old. Next-Gen sequencing for DICER1 mutations of their family revealed that both twins and their mother had c.C3675A mutation. The mother also had a history of multinodular goiter...
December 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28660979/gel-seq-whole-genome-and-transcriptome-sequencing-by-simultaneous-low-input-dna-and-rna-library-preparation-using-semi-permeable-hydrogel-barriers
#10
Gordon D Hoople, Andrew Richards, Yan Wu, Kota Kaneko, Xiaolin Luo, Gen-Sheng Feng, Kun Zhang, Albert P Pisano
The advent of next generation sequencing has fundamentally changed genomics research. Unfortunately, standard protocols for sequencing the genome and the transcriptome are incompatible. This forces researchers to choose between examining either the DNA or the RNA for a particular sample. Here we describe a new device and method, collectively dubbed Gel-seq, that enables researchers to simultaneously sequence both DNA and RNA from the same sample. This technology makes it possible to directly examine the ways that changes in the genome impact the transcriptome in as few as 100 cells...
July 25, 2017: Lab on a Chip
https://www.readbyqxmd.com/read/28442585/next-generation-sequencing-analysis-and-algorithms-for-pdx-and-cdx-models
#11
Garima Khandelwal, María Romina Girotti, Christopher Smowton, Sam Taylor, Christopher Wirth, Marek Dynowski, Kristopher K Frese, Ged Brady, Caroline Dive, Richard Marais, Crispin Miller
Patient-derived xenograft (PDX) and circulating tumor cell-derived explant (CDX) models are powerful methods for the study of human disease. In cancer research, these methods have been applied to multiple questions, including the study of metastatic progression, genetic evolution, and therapeutic drug responses. As PDX and CDX models can recapitulate the highly heterogeneous characteristics of a patient tumor, as well as their response to chemotherapy, there is considerable interest in combining them with next-generation sequencing to monitor the genomic, transcriptional, and epigenetic changes that accompany oncogenesis...
April 25, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28289279/next-gen-sequencing-identifies-non-coding-variation-disrupting-mirna-binding-sites-in-neurological-disorders
#12
P Devanna, X S Chen, J Ho, D Gajewski, S D Smith, A Gialluisi, C Francks, S E Fisher, D F Newbury, S C Vernes
Understanding the genetic factors underlying neurodevelopmental and neuropsychiatric disorders is a major challenge given their prevalence and potential severity for quality of life. While large-scale genomic screens have made major advances in this area, for many disorders the genetic underpinnings are complex and poorly understood. To date the field has focused predominantly on protein coding variation, but given the importance of tightly controlled gene expression for normal brain development and disorder, variation that affects non-coding regulatory regions of the genome is likely to play an important role in these phenotypes...
March 14, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28224057/identification-and-characterization-of-microsatellite-markers-in-pinus-kesiya-var-langbianensis-pinaceae
#13
Nian-Hui Cai, Yu-Lan Xu, Da-Wei Wang, Shi Chen, Gen-Qian Li
PREMISE OF THE STUDY: Microsatellite primers were developed in Pinus kesiya var. langbianensis (Pinaceae), a species native to southwestern China, to investigate its genetic diversity and population structure in order to provide information for the conservation and management of this species. METHODS AND RESULTS: Using next-generation sequencing, a total of 2349 putative simple sequence repeat primer pairs were designed. Eighteen polymorphic markers in 60 individuals belonging to four populations of P...
February 2017: Applications in Plant Sciences
https://www.readbyqxmd.com/read/27901429/no-panacea-next-gen-sequencing-will-not-mitigate-adoptees-lack-of-genetic-family-health-history
#14
Stephanie M Fullerton
No abstract text is available yet for this article.
December 2016: American Journal of Bioethics: AJOB
https://www.readbyqxmd.com/read/27785359/pygeno-a-python-package-for-precision-medicine-and-proteogenomics
#15
Tariq Daouda, Claude Perreault, Sébastien Lemieux
pyGeno is a Python package mainly intended for precision medicine applications that revolve around genomics and proteomics. It integrates reference sequences and annotations from Ensembl, genomic polymorphisms from the dbSNP database and data from next-gen sequencing into an easy to use, memory-efficient and fast framework, therefore allowing the user to easily explore subject-specific genomes and proteomes. Compared to a standalone program, pyGeno gives the user access to the complete expressivity of Python, a general programming language...
2016: F1000Research
https://www.readbyqxmd.com/read/27745839/structural-chromosomal-rearrangements-require-nucleotide-level-resolution-lessons-from-next-generation-sequencing-in-prenatal-diagnosis
#16
Zehra Ordulu, Tammy Kammin, Harrison Brand, Vamsee Pillalamarri, Claire E Redin, Ryan L Collins, Ian Blumenthal, Carrie Hanscom, Shahrin Pereira, India Bradley, Barbara F Crandall, Pamela Gerrol, Mark A Hayden, Naveed Hussain, Bibi Kanengisser-Pines, Sibel Kantarci, Brynn Levy, Michael J Macera, Fabiola Quintero-Rivera, Erica Spiegel, Blair Stevens, Janet E Ulm, Dorothy Warburton, Louise E Wilkins-Haug, Naomi Yachelevich, James F Gusella, Michael E Talkowski, Cynthia C Morton
In this exciting era of "next-gen cytogenetics," integrating genomic sequencing into the prenatal diagnostic setting is possible within an actionable time frame and can provide precise delineation of balanced chromosomal rearrangements at the nucleotide level. Given the increased risk of congenital abnormalities in newborns with de novo balanced chromosomal rearrangements, comprehensive interpretation of breakpoints could substantially improve prediction of phenotypic outcomes and support perinatal medical care...
November 3, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27706155/alignerboost-a-generalized-software-toolkit-for-boosting-next-gen-sequencing-mapping-accuracy-using-a-bayesian-based-mapping-quality-framework
#17
Qi Zheng, Elizabeth A Grice
Accurate mapping of next-generation sequencing (NGS) reads to reference genomes is crucial for almost all NGS applications and downstream analyses. Various repetitive elements in human and other higher eukaryotic genomes contribute in large part to ambiguously (non-uniquely) mapped reads. Most available NGS aligners attempt to address this by either removing all non-uniquely mapping reads, or reporting one random or "best" hit based on simple heuristics. Accurate estimation of the mapping quality of NGS reads is therefore critical albeit completely lacking at present...
October 2016: PLoS Computational Biology
https://www.readbyqxmd.com/read/27624755/coetzeea-brasiliensis-gen-nov-sp-nov-isolated-from-larvae-of-anopheles-darlingi
#18
Peter Kämpfer, Stefanie P Glaeser, Osvaldo Marinotti, Lionel Guy, Sebastian Håkansson, Wanderli P Tadei, Hans-Jürgen Busse, Olle Terenius
A Gram-stain-negative, rod-shaped strain, Braz8T, isolated from larvae of Anopheles darlingi was investigated using a polyphasic approach. Phylogenetic analysis based on 16S rRNA gene sequences showed that strain Braz8T was related most closely to species of the genus Thorsellia, with 95.6, 96.5 and 96.6 % similarity to the type strains of Thorsellia anophelis, Thorsellia kandunguensis and Thorsellia kenyensis, respectively, and formed a separate branch in the phylogenetic tree next to the monophyletic cluster of the genus Thorsellia...
December 2016: International Journal of Systematic and Evolutionary Microbiology
https://www.readbyqxmd.com/read/27489207/genome-wide-analysis-of-polyadenylation-events-in-schmidtea-mediterranea
#19
Vairavan Lakshmanan, Dhiru Bansal, Jahnavi Kulkarni, Deepak Poduval, Srikar Krishna, Vidyanand Sasidharan, Praveen Anand, Aswin Seshasayee, Dasaradhi Palakodeti
In eukaryotes, 3' untranslated regions (UTRs) play important roles in regulating posttranscriptional gene expression. The 3'UTR is defined by regulated cleavage/polyadenylation of the pre-mRNA. The advent of next-generation sequencing technology has now enabled us to identify these events on a genome-wide scale. In this study, we used poly(A)-position profiling by sequencing (3P-Seq) to capture all poly(A) sites across the genome of the freshwater planarian, Schmidtea mediterranea, an ideal model system for exploring the process of regeneration and stem cell function...
October 13, 2016: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/27488298/clinical-decision-making-integrating-advances-in-the-molecular-understanding-of-spine-tumors
#20
REVIEW
C Rory Goodwin, Nancy Abu-Bonsrah, Mark H Bilsky, Jeremy J Reynolds, Laurence D Rhines, Ilya Laufer, Alexander C Disch, Arpad Bozsodi, Shreyaskumar R Patel, Ziya L Gokaslan, Daniel M Sciubba, Chetan Bettegowda
STUDY DESIGN: Literature review. OBJECTIVE: To describe advancements in molecular techniques, biomarkers, technology, and targeted therapeutics and the potential these modalities hold to predict treatment paradigms, clinical outcomes, and/or survival in patients diagnosed with primary spinal column tumors. SUMMARY OF BACKGROUND DATA: Advances in molecular technologies and techniques have influenced the prevention, diagnosis, and overall management of patients diagnosed with cancer...
October 15, 2016: Spine
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