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Eriberto Bressan, Nadia Ferrarese, Mattia Pramstraller, Diego Lops, Roberto Farina, Cristiano Tomasi
AIMS: To evaluate the ridge dimensions of posterior sextant in totally edentulous mandibles. MATERIAL AND METHODS: Cone beam computed tomography scans of 136 patients were retrospectively included for analysis. At sites corresponding to the second premolar (site a) and the mesial and distal root of first molar (sites b and c, respectively), bone height (BH) and bone width (BW) were measured. RESULTS: BH significantly decreased from site a (11...
October 26, 2016: Implant Dentistry
Kathryn H Hrinkevich, Robert A Progar, David C Shaw
The balsam woolly adelgid (Adelges piceae (Ratzeburg) (Homoptera: Adelgidae)) (BWA) is a nonnative, invasive insect that threatens Abies species throughout North America. It is well established in the Pacific Northwest, but continues to move eastward through Idaho and into Montana and potentially threatens subalpine fir to the south in the central and southern Rocky Mountains. We developed a climatic risk model and map that predicts BWA impacts to subalpine fir using a two-step process. Using 30-year monthly climate normals from sites with quantitatively derived BWA damage severity index values, we built a regression model that significantly explained insect damage...
2016: PloS One
Hassol Lim, Young-Mi Park, Jong-Keuk Lee, Hyun Taek Lim
OBJECTIVE: To present an efficient and successful application of a single-exome sequencing study in a family clinically diagnosed with X-linked retinitis pigmentosa. DESIGN: Exome sequencing study based on clinical examination data. PARTICIPANTS: An 8-year-old proband and his family. METHODS: The proband and his family members underwent comprehensive ophthalmologic examinations. Exome sequencing was undertaken in the proband using Agilent SureSelect Human All Exon Kit and Illumina HiSeq 2000 platform...
October 2016: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
Kari Branham, Hiroko Matsui, Pooja Biswas, Aditya A Guru, Michael Hicks, John J Suk, He Li, David Jakubosky, Tao Long, Amalio Telenti, Naoki Nariai, John R Heckenlively, Kelly A Frazer, Paul A Sieving, Radha Ayyagari
While more than 250 genes are known to cause inherited retinal degenerations (IRD), nearly 40-50% of families have the genetic basis for their disease unknown. In this study we sought to identify the underlying cause of inherited retinal degeneration (IRD) in a family by whole genome sequence (WGS) analysis. Clinical characterization including standard ophthalmic examination, fundus photography, visual field testing, electroretinography, and review of medical and family history was performed. WGS was performed on affected and unaffected family members using Illumina HiSeq X10...
October 7, 2016: Physiological Genomics
Austyn L Nealer, Dustin D Dunnick, Kylie K Malyszek, Megan A Wong, Pablo B Costa, Jared W Coburn, Lee E Brown
Speed is a crucial element an athlete must possess to be successful. In soccer, the ability to accelerate faster than your opponent can result in being first to reach a ball on a breakaway or stopping a counter attack. A unique way to train explosive movements is to evoke postactivation potentiation (PAP) in the working muscles. Traditionally, an overload stimulus with a long rest period is used, but a model utilizing an overspeed stimulus with shorter rest periods is less understood. Therefore, the purpose of this study was to determine the acute effects of varied rest intervals following assisted sprinting on bodyweight sprint time...
October 6, 2016: Journal of Strength and Conditioning Research
Shulan Tian, Huihuang Yan, Michael Kalmbach, Susan L Slager
BACKGROUND: GATK Best Practices workflows are widely used in large-scale sequencing projects and recommend post-alignment processing before variant calling. Two key post-processing steps include the computationally intensive local realignment around known INDELs and base quality score recalibration (BQSR). Both have been shown to reduce erroneous calls; however, the findings are mainly supported by the analytical pipeline that incorporates BWA and GATK UnifiedGenotyper. It is not known whether there is any benefit of post-processing and to what extent the benefit might be for pipelines implementing other methods, especially given that both mappers and callers are typically updated...
October 3, 2016: BMC Bioinformatics
Robert Kofler, Anna Maria Langmüller, Pierre Nouhaud, Kathrin Anna Otte, Christian Schlötterer
The cost-effectiveness of sequencing pools of individuals (Pool-Seq) provides the basis for the popularity and wide-spread use of this method for many research questions, ranging from unravelling the genetic basis of complex traits to the clonal evolution of cancer cells. Because the accuracy of Pool-Seq could be affected by many potential sources of error, several studies determined, for example, the influence of the sequencing technology, the library preparation protocol, and mapping parameters. Nevertheless, the impact of the mapping tools has not yet been evaluated...
September 9, 2016: G3: Genes—Genomes—Genetics
Chandra Shekhar Pareek, Rafał Smoczyński, Haja N Kadarmideen, Piotr Dziuba, Paweł Błaszczyk, Marcin Sikora, Paulina Walendzik, Tomasz Grzybowski, Mariusz Pierzchała, Jarosław Horbańczuk, Agnieszka Szostak, Magdalena Ogluszka, Lech Zwierzchowski, Urszula Czarnik, Leyland Fraser, Przemysław Sobiech, Krzysztof Wąsowicz, Brian Gelfand, Yaping Feng, Dibyendu Kumar
Examination of bovine pituitary gland transcriptome by strand-specific RNA-seq allows detection of putative single nucleotide polymorphisms (SNPs) within potential candidate genes (CGs) or QTLs regions as well as to understand the genomics variations that contribute to economic trait. Here we report a breed-specific model to successfully perform the detection of SNPs in the pituitary gland of young growing bulls representing Polish Holstein-Friesian (HF), Polish Red, and Hereford breeds at three developmental ages viz...
2016: PloS One
Steve Laurie, Marcos Fernandez-Callejo, Santiago Marco-Sola, Jean-Remi Trotta, Jordi Camps, Alejandro Chacón, Antonio Espinosa, Marta Gut, Ivo Gut, Simon Heath, Sergi Beltran
As whole genome sequencing becomes cheaper and faster, it will progressively substitute targeted next-generation sequencing as standard practice in research and diagnostics. However, computing cost-performance ratio is not advancing at an equivalent rate. Therefore, it is essential to evaluate the robustness of the variant detection process taking into account the computing resources required. We have benchmarked six combinations of state-of-the-art read aligners (BWA-MEM and GEM3) and variant callers (FreeBayes, GATK HaplotypeCaller, SAMtools) on whole genome and whole exome sequencing data from the NA12878 human sample...
December 2016: Human Mutation
Emily Humble, Michael A S Thorne, Jaume Forcada, Joseph I Hoffman
BACKGROUND: Single nucleotide polymorphism (SNP) discovery is an important goal of many studies. However, the number of 'putative' SNPs discovered from a sequence resource may not provide a reliable indication of the number that will successfully validate with a given genotyping technology. For this it may be necessary to account for factors such as the method used for SNP discovery and the type of sequence data from which it originates, suitability of the SNP flanking sequences for probe design, and genomic context...
2016: BMC Research Notes
Zongji Wang, Jinmin Lian, Qiye Li, Pei Zhang, Yang Zhou, Xiaoyu Zhan, Guojie Zhang
BACKGROUND: High-throughput sequencing (HTS) provides a powerful solution for the genome-wide identification of RNA-editing sites. However, it remains a great challenge to distinguish RNA-editing sites from genetic variants and technical artifacts caused by sequencing or read-mapping errors. RESULTS: Here we present RES-Scanner, a flexible and efficient software package that detects and annotates RNA-editing sites using matching RNA-seq and DNA-seq data from the same individuals or samples...
2016: GigaScience
M V Dávila, P M Pasinetti, D A Matoz-Fernandez, A J Ramirez-Pastor
The statistical thermodynamics of binary mixtures of polyatomic species was developed based on a generalization in the spirit of the lattice-gas model and the quasi-chemical approximation (QCA). The new theoretical framework is obtained by combining: (i) the exact analytical expression for the partition function of non-interacting mixtures of linear k-mers and l-mers (species occupying k sites and l sites, respectively) adsorbed in one dimension, and its extension to higher dimensions; and (ii) a generalization of the classical QCA for multicomponent adsorbates and multisite-occupancy adsorption...
September 28, 2016: Physical Chemistry Chemical Physics: PCCP
Kotaro Ishii, Yusuke Kazama, Tomonari Hirano, Michiaki Hamada, Yukiteru Ono, Mieko Yamada, Tomoko Abe
Detection of mutations at the whole-genome level is now possible by the use of high-throughput sequencing. However, determining mutations is a time-consuming process due to the number of false positives provided by mutation-detecting programs. AMAP (automated mutation analysis pipeline) was developed to overcome this issue. AMAP integrates a set of well-validated programs for mapping (BWA), removal of potential PCR duplicates (Picard), realignment (GATK) and detection of mutations (SAMtools, GATK, Pindel, BreakDancer and CNVnator)...
July 25, 2016: Genes & Genetic Systems
Jian Song, Xiping Yang, Marcio F R Resende, Leandro G Neves, James Todd, Jisen Zhang, Jack C Comstock, Jianping Wang
Sugarcane (Saccharum spp.) is an important sugar and biofuel crop with high polyploid and complex genomes. The Saccharum complex, comprised of Saccharum genus and a few related genera, are important genetic resources for sugarcane breeding. A large amount of natural variation exists within the Saccharum complex. Though understanding their allelic variation has been challenging, it is critical to dissect allelic structure and to identify the alleles controlling important traits in sugarcane. To characterize natural variations in Saccharum complex, a target enrichment sequencing approach was used to assay 12 representative germplasm accessions...
2016: Frontiers in Plant Science
Philip T L C Clausen, Ea Zankari, Frank M Aarestrup, Ole Lund
OBJECTIVES: Next generation sequencing (NGS) may be an alternative to phenotypic susceptibility testing for surveillance and clinical diagnosis. However, current bioinformatics methods may be associated with false positives and negatives. In this study, a novel mapping method was developed and benchmarked to two different methods in current use for identification of antibiotic resistance genes in bacterial WGS data. METHODS: A novel method, KmerResistance, which examines the co-occurrence of k-mers between the WGS data and a database of resistance genes, was developed...
September 2016: Journal of Antimicrobial Chemotherapy
H Jo
Along with recent progress in next-generation sequencing technology, it has become easier to process larger amounts of genome sequencing data at a lower cost. The most time-consuming step of next-generation sequencing data analysis involves the mapping of read data into a reference genome. Although the Burrows-Wheeler Alignment (BWA) tool is one of the most widely used open-source software tools for aligning read sequences, it still has a limitation in that it does not fully support a multi-thread mechanism during the alignment generation step...
2016: Genetics and Molecular Research: GMR
José M Abuín, Juan C Pichel, Tomás F Pena, Jorge Amigo
Next-generation sequencing (NGS) technologies have led to a huge amount of genomic data that need to be analyzed and interpreted. This fact has a huge impact on the DNA sequence alignment process, which nowadays requires the mapping of billions of small DNA sequences onto a reference genome. In this way, sequence alignment remains the most time-consuming stage in the sequence analysis workflow. To deal with this issue, state of the art aligners take advantage of parallelization strategies. However, the existent solutions show limited scalability and have a complex implementation...
2016: PloS One
Sunshin Kim, HeeJung Jung, Sung Hee Han, SeungJae Lee, JeongSub Kwon, Min Gyun Kim, Hyungsik Chu, Hongliang Chen, Kyudong Han, Hwanjong Kwak, Sunghoon Park, Hee Jae Joo, Byung Chul Kim, Jong Bhak
BACKGROUND: Noninvasive prenatal testing (NIPT) to detect fetal aneuploidy using next-generation sequencing on ion semiconductor platforms has become common. There are several sequencers that can generate sufficient DNA reads for NIPT. However, the approval criteria vary among platforms and countries. This can delay the introduction of such devices and systems to clinics. A comparison of the sensitivity and specificity of two different platforms using the same sequencing chemistry could be useful in NIPT for fetal chromosomal aneuploidies...
2016: BMC Medical Genomics
Helen M Kamens, Robin P Corley, Phillip A Richmond, Todd M Darlington, Robin Dowell, Christian J Hopfer, Michael C Stallings, John K Hewitt, Sandra A Brown, Marissa A Ehringer
Common SNPs in nicotinic acetylcholine receptor genes (CHRN genes) have been associated with drug behaviors and personality traits, but the influence of rare genetic variants is not well characterized. The goal of this project was to identify novel rare variants in CHRN genes in the Center for Antisocial Drug Dependence (CADD) and Genetics of Antisocial Drug Dependence (GADD) samples and to determine if low frequency variants are associated with antisocial drug dependence. Two samples of 114 and 200 individuals were selected using a case/control design including the tails of the phenotypic distribution of antisocial drug dependence...
September 2016: Behavior Genetics
Rolf M Paninka, Diego R Mazzotti, Marina M L Kizys, Angela C Vidi, Hélio Rodrigues, Silas P Silva, Ilda S Kunii, Gilberto K Furuzawa, Manoel Arcisio-Miranda, Magnus R Dias-da-Silva
Next-generation sequencing (NGS) has enriched the understanding of the human genome. However, homologous or repetitive sequences shared among genes frequently produce dubious alignments and can puzzle NGS mutation analysis, especially for paralogous potassium channels. Potassium inward rectifier (Kir) channels are important to establish the resting membrane potential and regulating the muscle excitability. Mutations in Kir channels cause disorders affecting the heart and skeletal muscle, such as arrhythmia and periodic paralysis...
August 2016: Molecular Genetics and Genomics: MGG
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