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https://www.readbyqxmd.com/read/28551919/-utilization-of-whole-exome-sequencing-in-diagnostics-of-genetic-disease-rabin-medical-center-s-experience
#1
Lior Cohen, Naama Orenstein, Monica Weisz-Hubshman, Lily Bazak, Bella Davidov, Eyal Reinstein, Shay Tzur, Doron Behar, Pola Smirin-Yosef, Mali Salmon-Divon, Amit Gross, Mordechai Shohat, Lina Basel-Vanagaite
INTRODUCTION: Whole exome sequencing is a diagnostic approach for the identification of molecular etiology in patients with suspected monogenic diseases. In this article we report on our experience with whole-exome sequencing (WES) of DNA samples taken from patients referred for genetic evaluation due to suspected undiagnosed genetic conditions. METHODS: Exome enrichment was achieved by Nextera Rapid Capture Expanded Exome Kit. Whole-exome sequencing was performed on Illumina HiSeq 2500...
April 2017: Harefuah
https://www.readbyqxmd.com/read/28551744/endophytic-bacterial-and-fungal-communities-transmitted-from-cotyledons-and-germs-in-peanut-arachis-hypogaea-l-sprouts
#2
Yali Huang, Zaoyuan Kuang, Zujun Deng, Ren Zhang, Lixiang Cao
Seed-borne endophytes could be transmitted into sprouts. Whether this happened in peanuts and the difference between microbial taxa in peanut germs and cotyledons remain unknown. In this research, Illumina-based sequencing was employed to investigate the microbial taxa in peanut germs, cotyledons, and sprouts. Sulfur-oxidizing bacteria was isolated and inoculated into peanut sprouts, and then, the growth of peanut seedlings was measured. The results illustrated that diverse bacteria and fungi were detected in peanut germs, cotyledons, and sprouts...
May 27, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28551433/elucidation-of-microbial-characterization-of-aerobic-granules-in-a-sequencing-batch-reactor-performing-simultaneous-nitrification-denitrification-and-phosphorus-removal-at-varying-carbon-to-phosphorus-ratios
#3
Qiulai He, Jun Zhou, Qun Song, Wei Zhang, Hongyu Wang, Li Liu
An aerobic granules simultaneous nitrification, denitrification and phosphorus removal (SNDPR) system was evaluated in terms of the reactor performance and microbial population dynamics with decreasing C/P ratios from 50 to 16. The effects of C/P ratios on organic carbon and nutrients removal were investigated, as well as the alpha diversity of the bacterial community and bacterial compositions by using Illumina MiSeq pyrosequencing technology. Finally, the relative abundances and distribution patterns were identified and assessed given the key functional groups involved in biological nutrients removals to reveal the effects of C/P ratios to aerobic granules in the SNDPR from the molecular level...
May 18, 2017: Bioresource Technology
https://www.readbyqxmd.com/read/28551228/species-identification-in-mixed-tuna-samples-with-next-generation-sequencing-targeting-two-short-cytochrome-b-gene-fragments
#4
Kristina Kappel, Ilka Haase, Christine Käppel, Carmen G Sotelo, Ute Schröder
Conventional Sanger sequencing of PCR products is the gold standard for species authentication of seafood products. However, this method is inappropriate for the analysis of products that might contain mixtures of species, such as tinned tuna. The purpose of this study was to test whether next-generation sequencing (NGS) can be a solution for the authentication of mixed products. Nine tuna samples containing mixtures of up to four species were prepared and subjected to an NGS approach targeting two short cytochrome b gene (cytb) fragments on the Illumina MiSeq platform...
November 1, 2017: Food Chemistry
https://www.readbyqxmd.com/read/28551195/association-analysis-for-young-stock-survival-index-with-imputed-whole-genome-sequence-variants-in-nordic-holstein-cattle
#5
Xiaoping Wu, Bernt Guldbrandtsen, Ulrik Sander Nielsen, Mogens Sandø Lund, Goutam Sahana
Identification of the genetic variants associated with calf survival in dairy cattle will aid in the elimination of harmful mutations from the cattle population and the reduction of calf and young stock mortality rates. We used de-regressed estimated breeding values for the young stock survival (YSS) index as response variables in a genome-wide association study with imputed whole-genome sequence variants. A total of 4,610 bulls with estimated breeding values were genotyped with the Illumina BovineSNP50 (Illumina, San Diego, CA) single nucleotide polymorphism (SNP) genotyping array...
May 24, 2017: Journal of Dairy Science
https://www.readbyqxmd.com/read/28549855/multi-platform-analysis-reveals-a-complex-transcriptome-architecture-of-a-circovirus
#6
Norbert Moldován, Zsolt Balázs, Dóra Tombácz, Zsolt Csabai, Attila Szűcs, Michael Snyder, Zsolt Boldogkői
In this study, we used Pacific Biosciences RS II long-read and Illumina HiScanSQ short-read sequencing technologies for the characterization of porcine circovirus type 1 (PCV-1) transcripts. Our aim was to identify novel RNA molecules and transcript isoforms, as well as to determine the exact 5'- and 3'-end sequences of previously described transcripts with single base-pair accuracy. We discovered a novel 3'-UTR length isoform of the Cap transcript, and a non-spliced Cap transcript variant. Additionally, our analysis has revealed a 3'-UTR isoform of Rep and two 5'-UTR isoforms of Rep' transcripts, and a novel splice variant of the longer Rep' transcript...
May 23, 2017: Virus Research
https://www.readbyqxmd.com/read/28549490/whole-genome-analysis-reveals-new-insights-into-macrolide-resistance-in-mycoplasma-pneumoniae
#7
Shao Li Li, Hong Mei Sun, Bao Li Zhu, Fei Liu, Han Qing Zhao
OBJECTIVE: Mutations in 23S rRNA gene are known to be associated with macrolide resistance in Mycoplasma pneumoniae (M. pneumoniae). However, these mutations alone do not fully explain the high resistance rates in Asia. The aim of this study was to investigate other possible mutations involved in macrolide resistance in M. pneumoniae. METHODS: The whole genomes of 10 clinical isolates of M. pneumoniae with macrolide resistance were sequenced by Illumina HiSeq2000 platform...
May 2017: Biomedical and Environmental Sciences: BES
https://www.readbyqxmd.com/read/28549456/association-mapping-of-loci-controlling-genetic-and-environmental-interaction-of-soybean-flowering-time-under-various-photo-thermal-conditions
#8
Tingting Mao, Jinyu Li, Zixiang Wen, Tingting Wu, Cunxiang Wu, Shi Sun, Bingjun Jiang, Wensheng Hou, Wenbin Li, Qijian Song, Dechun Wang, Tianfu Han
BACKGROUND: Soybean (Glycine max (L.) Merr.) is a short day plant. Its flowering and maturity time are controlled by genetic and environmental factors, as well the interaction between the two factors. Previous studies have shown that both genetic and environmental factors, mainly photoperiod and temperature, control flowering time of soybean. Additionally, these studies have reported gene × gene and gene × environment interactions on flowering time. However, the effects of quantitative trait loci (QTL) in response to photoperiod and temperature have not been well evaluated...
May 26, 2017: BMC Genomics
https://www.readbyqxmd.com/read/28549198/de-novo-transcriptome-assembly-of-sugarcane-leaves-submitted-to-prolonged-water-deficit-stress
#9
A A Belesini, F M S Carvalho, B R Telles, G M de Castro, P F Giachetto, J S Vantini, S D Carlin, J O Cazetta, D G Pinheiro, M I T Ferro
Sugarcane production is strongly influenced by drought, which is a limiting factor for agricultural productivity in the world. In this study, the gene expression profiles obtained by de novo assembly of the leaf transcriptome of two sugarcane cultivars that differ in their physiological response to water deficit were evaluated by the RNA-Seq method: drought-tolerant cultivar (SP81-3250) and drought-sensitive cultivar (RB855453). For this purpose, plants were grown in a greenhouse for 60 days and were then submitted to three treatments: control (-0...
May 25, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28548470/whole-exome-sequencing-of-etv6-runx1-in-four-childhood-acute-lymphoblastic-leukaemia-cases
#10
Zubaidah Zakaria, Norodiyah Othman, Azli Ismail, Nor Rizan Kamaluddin, Ezalia Esa, Eni Juraida Abdul Rahman, Yuslina Mat Yusoff, Fazlin Mohd Fauzi, Ten Sew Keoh
Background: ETV6/RUNX1 gene fusion is the most frequently seen chromosomal abnormality in childhood acute lymphobastic leukamia (ALL). However, additional genetic changes are known to be required for the development of this type of leukaemia. Therefore, we here aimed to assess the somatic mutational profile of four ALL cases carrying the ETV6/RUNX1 fusion gene using whole-exome sequencing. Methods: DNA was isolated from bone marrow samples using a QIAmp DNA Blood Mini kit and subsequently sequenced using the Illumina MiSeq system...
April 1, 2017: Asian Pacific Journal of Cancer Prevention: APJCP
https://www.readbyqxmd.com/read/28547825/dual-redundant-sequencing-strategy-full-length-gene-characterisation-of-1056-novel-and-confirmatory-hla-alleles
#11
V Albrecht, C Zweiniger, V Surendranath, K Lang, G Schöfl, A Dahl, S Winkler, V Lange, I Böhme, A H Schmidt
The high-throughput department of DKMS Life Science Lab encounters novel human leukocyte antigen (HLA) alleles on a daily basis. To characterise these alleles, we have developed a system to sequence the whole gene from 5'- to 3'-UTR for the HLA loci A, B, C, DQB1 and DPB1 for submission to the European Molecular Biology Laboratory - European Nucleotide Archive (EMBL-ENA) and the IPD-IMGT/HLA Database. Our workflow is based on a dual redundant sequencing strategy. Using shotgun sequencing on an Illumina MiSeq instrument and single molecule real-time (SMRT) sequencing on a PacBio RS II instrument, we are able to achieve highly accurate HLA full-length consensus sequences...
May 25, 2017: HLA
https://www.readbyqxmd.com/read/28547520/small-scale-intraspecific-patterns-of-adaptive-immunogenetic-polymorphisms-and-neutral-variation-in-lake-superior-lake-trout
#12
Shauna M Baillie, Riley R Hemstock, Andrew M Muir, Charles C Krueger, Paul Bentzen
Many fishes express high levels of intraspecific variability, often linked to resource partitioning. Several studies show that a species' evolutionary trajectory of adaptive divergence can undergo reversals caused by changes in its environment. Such a reversal in neutral genetic and morphological variation among lake trout Salvelinus namaycush ecomorphs appears to be underway in Lake Superior. However, a water depth gradient in neutral genetic divergence was found to be associated with intraspecific diversity in the lake...
May 25, 2017: Immunogenetics
https://www.readbyqxmd.com/read/28546554/high-throughput-resistance-profiling-of-plasmodium-falciparum-infections-based-on-custom-dual-indexing-and-illumina-next-generation-sequencing-technology
#13
Sidsel Nag, Marlene D Dalgaard, Poul-Erik Kofoed, Johan Ursing, Marina Crespo, Lee O'Brien Andersen, Frank Møller Aarestrup, Ole Lund, Michael Alifrangis
Genetic polymorphisms in P. falciparum can be used to indicate the parasite's susceptibility to antimalarial drugs as well as its geographical origin. Both of these factors are key to monitoring development and spread of antimalarial drug resistance. In this study, we combine multiplex PCR, custom designed dual indexing and Miseq sequencing for high throughput SNP-profiling of 457 malaria infections from Guinea-Bissau, at the cost of 10 USD per sample. By amplifying and sequencing 15 genetic fragments, we cover 20 resistance-conferring SNPs occurring in pfcrt, pfmdr1, pfdhfr, pfdhps, as well as the entire length of pfK13, and the mitochondrial barcode for parasite origin...
May 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28546497/complete-genome-sequence-of-the-autotrophic-acetogen-clostridium-formicaceticum-dsm-92-t-using-nanopore-and-illumina-sequencing-data
#14
Michael M Karl, Anja Poehlein, Frank R Bengelsdorf, Rolf Daniel, Peter Dürre
Here, we report the closed genome sequence of Clostridium formicaceticum, an Rnf- and cytochrome-containing autotrophic acetogen that is able to convert carbon monoxide to acetate using the Wood-Ljungdahl pathway. The genome consists of a circular chromosome (4.59 Mb).
May 25, 2017: Genome Announcements
https://www.readbyqxmd.com/read/28544559/pipecraft-flexible-open-source-toolkit-for-bioinformatics-analysis-of-custom-high-throughput-amplicon-sequencing-data
#15
Sten Anslan, Mohammad Bahram, Indrek Hiiesalu, Leho Tedersoo
High-throughput sequencing methods have become a routine analysis tool in environmental sciences as well as in public and private sector. These methods provide vast amount of data, which need to be analyzed in several steps. Although the bioinformatics may be applied using several public tools, many analytical pipelines allow too few options for the optimal analysis for more complicated or customized designs. Here, we introduce PipeCraft, a flexible and handy bioinformatics pipeline with a user friendly graphical interface that links several public tools for analyzing amplicon sequencing data...
May 25, 2017: Molecular Ecology Resources
https://www.readbyqxmd.com/read/28542845/soil-fungal-diversity-in-natural-grasslands-of-the-tibetan-plateau-associations-with-plant-diversity-and-productivity
#16
Teng Yang, Jonathan M Adams, Yu Shi, Jin-Sheng He, Xin Jing, Litong Chen, Leho Tedersoo, Haiyan Chu
Previous studies have revealed inconsistent correlations between fungal diversity and plant diversity from local to global scales, and there is a lack of information about the diversity-diversity and productivity-diversity relationships for fungi in alpine regions. Here we investigated the internal relationships between soil fungal diversity, plant diversity and productivity across 60 grassland sites on the Tibetan Plateau, using Illumina sequencing of the internal transcribed spacer 2 (ITS2) region for fungal identification...
May 22, 2017: New Phytologist
https://www.readbyqxmd.com/read/28542624/pathogenic-seedborne-viruses-are-rare-but-phaseolus-vulgaris-endornaviruses-are-common-in-bean-varieties-grown-in-nicaragua-and-tanzania
#17
Noora Nordenstedt, Delfia Marcenaro, Daudi Chilagane, Beatrice Mwaipopo, Minna-Liisa Rajamäki, Susan Nchimbi-Msolla, Paul J R Njau, Deusdedith R Mbanzibwa, Jari P T Valkonen
Common bean (Phaseolus vulgaris) is an annual grain legume that was domesticated in Mesoamerica (Central America) and the Andes. It is currently grown widely also on other continents including Africa. We surveyed seedborne viruses in new common bean varieties introduced to Nicaragua (Central America) and in landraces and improved varieties grown in Tanzania (eastern Africa). Bean seeds, harvested from Nicaragua and Tanzania, were grown in insect-controlled greenhouse or screenhouse, respectively, to obtain leaf material for virus testing...
2017: PloS One
https://www.readbyqxmd.com/read/28542542/comparative-analysis-of-bacterial-community-structure-in-the-rhizosphere-of-maize-by-high-throughput-pyrosequencing
#18
Yi Yang, Na Wang, Xinyan Guo, Yi Zhang, Boping Ye
In this study, we designed a microcosm experiment to explore the composition of the bacterial community in the rhizosphere of maize and bulk soil by sequencing the V3-V4 region of the 16S rRNA gene on the Illumina system. 978-1239 OTUs (cut off level of 3%) were found in rhizosphere and bulk soil samples. Rhizosphere shared features with the bulk soil, such as predominance of Acidobacteria, Proteobacteria, Actinobacteria, Bacteroidetes, Chloroflexi, Firmicutes, Gemmatimonadetes and TM7. At genus level, many of the dominant rhizosphere genera (Chitinophaga, Nitrospira, Flavobacterium, etc...
2017: PloS One
https://www.readbyqxmd.com/read/28542459/identification-and-evaluation-of-resistance-to-powdery-mildew-and-yellow-rust-in-a-wheat-mapping-population
#19
Lijun Yang, Xuejiang Zhang, Xu Zhang, Jirui Wang, Mingcheng Luo, Mujun Yang, Hua Wang, Libo Xiang, Fansong Zeng, Dazhao Yu, Daolin Fu, Garry M Rosewarne
Deployment of cultivars with genetic resistance is an effective approach to control the diseases of powdery mildew (PM) and yellow rust (YR). Chinese wheat cultivar XK0106 exhibits high levels of resistance to both diseases, while cultivar E07901 has partial, adult plant resistance (APR). The aim of this study was to map resistance loci derived from the two cultivars and analyze their effects against PM and YR in a range of environments. A doubled haploid population (388 lines) was used to develop a framework map consisting of 117 SSR markers, while a much higher density map using the 90K Illumina iSelect SNP array was produced with a subset of 80 randomly selected lines...
2017: PloS One
https://www.readbyqxmd.com/read/28542313/environmental-dna-edna-metabarcoding-assays-to-detect-invasive-invertebrate-species-in-the-great-lakes
#20
Katy E Klymus, Nathaniel T Marshall, Carol A Stepien
Describing and monitoring biodiversity comprise integral parts of ecosystem management. Recent research coupling metabarcoding and environmental DNA (eDNA) demonstrate that these methods can serve as important tools for surveying biodiversity, while significantly decreasing the time, expense and resources spent on traditional survey methods. The literature emphasizes the importance of genetic marker development, as the markers dictate the applicability, sensitivity and resolution ability of an eDNA assay. The present study developed two metabarcoding eDNA assays using the mtDNA 16S RNA gene with Illumina MiSeq platform to detect invertebrate fauna in the Laurentian Great Lakes and surrounding waterways, with a focus for use on invasive bivalve and gastropod species monitoring...
2017: PloS One
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