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Whole genome alignment

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https://www.readbyqxmd.com/read/27912743/str-realigner-a-realignment-method-for-short-tandem-repeat-regions
#1
Kaname Kojima, Yosuke Kawai, Kazuharu Misawa, Takahiro Mimori, Masao Nagasaki
BACKGROUND: In the estimation of repeat numbers in a short tandem repeat (STR) region from high-throughput sequencing data, two types of strategies are mainly taken: a strategy based on counting repeat patterns included in sequence reads spanning the region and a strategy based on estimating the difference between the actual insert size and the insert size inferred from paired-end reads. The quality of sequence alignment is crucial, especially in the former approaches although usual alignment methods have difficulty in STR regions due to insertions and deletions caused by the variations of repeat numbers...
December 3, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27903645/upgrading-short-read-animal-genome-assemblies-to-chromosome-level-using-comparative-genomics-and-a-universal-probe-set
#2
Joana Damas, Rebecca O'Connor, Marta Farré, Vasileios Panagiotis E Lenis, Henry J Martell, Anjali Mandawala, Katie Fowler, Sunitha Joseph, Martin T Swain, Darren K Griffin, Denis M Larkin
Most recent initiatives to sequence and assemble new species' genomes de-novo fail to achieve the ultimate endpoint to produce contigs, each representing one whole chromosome. Even the best-assembled genomes (using contemporary technologies) consist of sub-chromosomal sized scaffolds. To circumvent this problem, we developed a novel approach that combines computational algorithms to merge scaffolds into chromosomal fragments, PCR-based scaffold verification and physical mapping to chromosomes. Multi-genome-alignment-guided probe selection led to the development of a set of universal avian BAC clones that permit rapid anchoring of multiple scaffolds to chromosomes on all avian genomes...
November 30, 2016: Genome Research
https://www.readbyqxmd.com/read/27902382/the-genetic-diversity-and-phenotypic-associations-of-feline-caliciviruses-from-cats-in-switzerland
#3
Andrea M Spiri, Julien Thézé, Marina L Meli, Valentino Cattori, Alice Berger, Adolf Steinrigl, Oliver G Pybus, Regina Hofmann-Lehmann, Barbara Willi
Feline calicivirus (FCV) is a common viral pathogen in domestic cats worldwide. The variable regions of the capsid (VP1) gene of FCV have one of the highest recorded rates of molecular evolution. Understanding the genetic diversity and phylogeny of FCV is a prerequisite to exploring the epidemiology and pathogenesis of this virus and to the development of efficacious vaccine strategies. In this study, we undertook a nationwide molecular characterization of FCV using for the first time nearly complete capsid (VP1) gene sequences...
October 7, 2016: Journal of General Virology
https://www.readbyqxmd.com/read/27895624/visualizing-evolutionary-relationships-of-multidomain-proteins-an-example-from-receiver-rec-domains-of-sensor-histidine-kinases-in-the-candidatus-maribeggiatoa-str-orange-guaymas-draft-genome
#4
Barbara J MacGregor
For multidomain proteins, evolutionary changes may occur at the domain as well as the whole-protein level. An example is presented here, with suggestions for how such complicated relationships might be visualized. Earlier analysis of the Candidatus Maribeggiatoa str. Orange Guaymas (BOGUAY; Gammaproteobacteria) single-filament draft genome found evidence of gene exchange with the phylogenetically distant Cyanobacteria, particularly for sensory and signal transduction proteins. Because these are modular proteins, known to undergo frequent duplication, domain swapping, and horizontal gene transfer, a single domain was chosen for analysis...
2016: Frontiers in Microbiology
https://www.readbyqxmd.com/read/27889124/assessing-genomic-prediction-accuracy-for-holstein-sires-using-bootstrap-aggregation-sampling-and-leave-one-out-cross-validation
#5
Ashley A Mikshowsky, Daniel Gianola, Kent A Weigel
Since the introduction of genome-enabled prediction for dairy cattle in 2009, genomic selection has markedly changed many aspects of the dairy genetics industry and enhanced the rate of response to selection for most economically important traits. Young dairy bulls are genotyped to obtain their genomic predicted transmitting ability (GPTA) and reliability (REL) values. These GPTA are a main factor in most purchasing, marketing, and culling decisions until bulls reach 5 yr of age and their milk-recorded offspring become available...
November 23, 2016: Journal of Dairy Science
https://www.readbyqxmd.com/read/27882129/whole-genome-resequencing-of-100-healthy-individuals-using-dna-pooling
#6
Xiaobin Wang, Weiguo Sui, Weiqing Wu, Xianliang Hou, Minglin Ou, Yueying Xiang, Yong Dai
With the advent of next-generation sequencing technology, the cost of sequencing has significantly decreased. However, sequencing costs remain high for large-scale studies. In the present study, DNA pooling was applied as a cost-effective strategy for sequencing. The sequencing results for 100 healthy individuals obtained via whole-genome resequencing and using DNA pooling are presented in the present study. In order to minimise the likelihood of systematic bias in sampling, paired-end libraries with an insert size of 500 bp were prepared for all samples and then subjected to whole-genome sequencing using four lanes for each library and resulting in at least a 30-fold haploid coverage for each sample...
November 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27855631/a-core-phylogeny-of-dictyostelia-inferred-from-genomes-representative-of-the-eight-major-and-minor-taxonomic-divisions-of-the-group
#7
Reema Singh, Christina Schilde, Pauline Schaap
BACKGROUND: Dictyostelia are a well-studied group of organisms with colonial multicellularity, which are members of the mostly unicellular Amoebozoa. A phylogeny based on SSU rDNA data subdivided all Dictyostelia into four major groups, but left the position of the root and of six group-intermediate taxa unresolved. Recent phylogenies inferred from 30 or 213 proteins from sequenced genomes, positioned the root between two branches, each containing two major groups, but lacked data to position the group-intermediate taxa...
November 17, 2016: BMC Evolutionary Biology
https://www.readbyqxmd.com/read/27842494/snooper-a-machine-learning-based-method-for-somatic-variant-identification-from-low-pass-next-generation-sequencing
#8
Jean-François Spinella, Pamela Mehanna, Ramon Vidal, Virginie Saillour, Pauline Cassart, Chantal Richer, Manon Ouimet, Jasmine Healy, Daniel Sinnett
BACKGROUND: Next-generation sequencing (NGS) allows unbiased, in-depth interrogation of cancer genomes. Many somatic variant callers have been developed yet accurate ascertainment of somatic variants remains a considerable challenge as evidenced by the varying mutation call rates and low concordance among callers. Statistical model-based algorithms that are currently available perform well under ideal scenarios, such as high sequencing depth, homogeneous tumor samples, high somatic variant allele frequency (VAF), but show limited performance with sub-optimal data such as low-pass whole-exome/genome sequencing data...
November 14, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27830680/-identification-and-characterization-of-ap2-erf-transcription-factors-in-moso-bamboo-phyllostachys-edulis
#9
Z Huang, X-J Zhong, J He, M-Y Jiang, X-F Yu, X Li
Bamboo belongs to subfamily Bambusoideae of the grass family and is one of the most important non-timber forest resources in the world. The AP2/ERF superfamily is a group of plant specific transcription factors and plays important roles in the regulation of plant growth and responses to biotic and abiotic stress. By comprehensively analyzing the recently uncovered whole genome sequence and full length cDNA of moso bamboo (Phyllostachys edulis), 142 AP2/ERF transcription factors were identified and 53 among them are supported by full length cDNA...
September 2016: Molekuliarnaia Biologiia
https://www.readbyqxmd.com/read/27821148/understanding-pneumococcal-serotype-1-biology-through-population-genomic-analysis
#10
Chrispin Chaguza, Jennifer E Cornick, Simon R Harris, Cheryl P Andam, Laura Bricio-Moreno, Marie Yang, Feyruz Yalcin, Sani Ousmane, Shanil Govindpersad, Madikay Senghore, Chinelo Ebruke, Mignon Du Plessis, Anmol M Kiran, Gerd Pluschke, Betuel Sigauque, Lesley McGee, Keith P Klugman, Paul Turner, Jukka Corander, Julian Parkhill, Jean-Marc Collard, Martin Antonio, Anne von Gottberg, Robert S Heyderman, Neil French, Aras Kadioglu, William P Hanage, Dean B Everett, Stephen D Bentley
BACKGROUND: Pneumococcus kills over one million children annually and over 90 % of these deaths occur in low-income countries especially in Sub-Saharan Africa (SSA) where HIV exacerbates the disease burden. In SSA, serotype 1 pneumococci particularly the endemic ST217 clone, causes majority of the pneumococcal disease burden. To understand the evolution of the virulent ST217 clone, we analysed ST217 whole genomes from isolates sampled from African and Asian countries. METHODS: We analysed 226 whole genome sequences from the ST217 lineage sampled from 9 African and 4 Asian countries...
November 8, 2016: BMC Infectious Diseases
https://www.readbyqxmd.com/read/27769321/single-exome-sequencing-identified-a-novel-rp2-mutation-in-a-child-with-x-linked-retinitis-pigmentosa
#11
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
https://www.readbyqxmd.com/read/27769169/unexpected-effects-of-different-genetic-backgrounds-on-identification-of-genomic-rearrangements-via-whole-genome-next-generation-sequencing
#12
Zhangguo Chen, Katherine Gowan, Sonia M Leach, Sawanee S Viboolsittiseri, Ameet K Mishra, Tanya Kadoishi, Katrina Diener, Bifeng Gao, Kenneth Jones, Jing H Wang
BACKGROUND: Whole genome next generation sequencing (NGS) is increasingly employed to detect genomic rearrangements in cancer genomes, especially in lymphoid malignancies. We recently established a unique mouse model by specifically deleting a key non-homologous end-joining DNA repair gene, Xrcc4, and a cell cycle checkpoint gene, Trp53, in germinal center B cells. This mouse model spontaneously develops mature B cell lymphomas (termed G1XP lymphomas). RESULTS: Here, we attempt to employ whole genome NGS to identify novel structural rearrangements, in particular inter-chromosomal translocations (CTXs), in these G1XP lymphomas...
October 21, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27769166/expansion-of-the-phosphatidylethanolamine-binding-protein-family-in-legumes-a-case-study-of-lupinus-angustifolius-l-flowering-locus-t-homologs-lanftc1-and-lanftc2
#13
Michał Książkiewicz, Sandra Rychel, Matthew N Nelson, Katarzyna Wyrwa, Barbara Naganowska, Bogdan Wolko
BACKGROUND: The Arabidopsis FLOWERING LOCUS T (FT) gene, a member of the phosphatidylethanolamine binding protein (PEBP) family, is a major controller of flowering in response to photoperiod, vernalization and light quality. In legumes, FT evolved into three, functionally diversified clades, FTa, FTb and FTc. A milestone achievement in narrow-leafed lupin (Lupinus angustifolius L.) domestication was the loss of vernalization responsiveness at the Ku locus. Recently, one of two existing L...
October 21, 2016: BMC Genomics
https://www.readbyqxmd.com/read/27765810/genome-report-whole-genome-sequence-of-two-wild-derived-mus-musculus-domesticus-inbred-strains-lewes-eij-and-zalende-eij-with-different-diploid-numbers
#14
Andrew P Morgan, John P Didion, Anthony G Doran, James M Holt, Leonard McMillan, Thomas M Keane, Fernando Pardo-Manuel de Villena
Wild-derived mouse inbred strains are becoming increasingly popular for complex traits analysis, evolutionary studies, and systems genetics. Here we report the whole-genome sequencing of two wild-derived mouse inbred strains, LEWES/EiJ and ZALENDE/EiJ, of Mus musculus domesticus origin. These two inbred strains were selected based on their geographic origin, karyotype, and use in ongoing research. We generated 14X and 18X coverage sequence, respectively, and discovered over 1.1 million novel variants, most of which are private to one of these strains...
October 7, 2016: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/27764769/establishing-the-involvement-of-the-novel-gene-agbl5-in-retinitis-pigmentosa-by-whole-genome-sequencing
#15
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
https://www.readbyqxmd.com/read/27755612/mitochondrial-genomes-of-kinorhyncha-trnm-duplication-and-new-gene-orders-within-animals
#16
Olga V Popova, Kirill V Mikhailov, Mikhail A Nikitin, Maria D Logacheva, Aleksey A Penin, Maria S Muntyan, Olga S Kedrova, Nikolai B Petrov, Yuri V Panchin, Vladimir V Aleoshin
Many features of mitochondrial genomes of animals, such as patterns of gene arrangement, nucleotide content and substitution rate variation are extensively used in evolutionary and phylogenetic studies. Nearly 6,000 mitochondrial genomes of animals have already been sequenced, covering the majority of animal phyla. One of the groups that escaped mitogenome sequencing is phylum Kinorhyncha-an isolated taxon of microscopic worm-like ecdysozoans. The kinorhynchs are thought to be one of the early-branching lineages of Ecdysozoa, and their mitochondrial genomes may be important for resolving evolutionary relations between major animal taxa...
2016: PloS One
https://www.readbyqxmd.com/read/27739035/hsv-1-clinical-isolates-with-unique-in-vivo-and-in-vitro-phenotypes-and-insight-into-genomic-differences
#17
Robert J Danaher, Derrick E Fouts, Agnes P Chan, Yongwook Choi, Jessica DePew, Jamison M McCorrison, Karen E Nelson, Chunmei Wang, Craig S Miller
Strain-specific factors contribute in significant but undefined ways to the variable incidence of herpes simplex virus (HSV) recrudescence. Studies that investigate these strain-specific factors are needed. Here, we used qPCR, in vitro assays, and genomic sequencing to identify important relationships between in vitro and clinical phenotypes of unique HSV-1 clinical isolates. Nine HSV-1 isolates from individuals displaying varying reactivation patterns were studied. Isolates associated with frequent recurrent herpes labialis (RHL) (1) displayed higher rates of viral shedding in the oral cavity than those associated with rare RHL and (2) tended to replicate more efficiently at 33 °C than 39 °C...
October 13, 2016: Journal of Neurovirology
https://www.readbyqxmd.com/read/27724866/fmap-functional-mapping-and-analysis-pipeline-for-metagenomics-and-metatranscriptomics-studies
#18
Jiwoong Kim, Min Soo Kim, Andrew Y Koh, Yang Xie, Xiaowei Zhan
BACKGROUND: Given the lack of a complete and comprehensive library of microbial reference genomes, determining the functional profile of diverse microbial communities is challenging. The available functional analysis pipelines lack several key features: (i) an integrated alignment tool, (ii) operon-level analysis, and (iii) the ability to process large datasets. RESULTS: Here we introduce our open-sourced, stand-alone functional analysis pipeline for analyzing whole metagenomic and metatranscriptomic sequencing data, FMAP (Functional Mapping and Analysis Pipeline)...
October 10, 2016: BMC Bioinformatics
https://www.readbyqxmd.com/read/27718335/psmc-pairwise-sequentially-markovian-coalescent-analysis-of-rad-restriction-site-associated-dna-sequencing-data
#19
Shenglin Liu, Michael M Hansen
The Pairwise Sequentially Markovian Coalescent (PSMC) method uses the genome sequence of a single individual to estimate demographic history covering a time span of thousands of generations. Although originally designed for whole genome data, we here use simulations to investigate its applicability to reference genome aligned RAD (Restriction site Associated DNA) data. We find that RAD data can potentially be used for PSMC analysis, but at present with limitations. The key factor is the proportion (p) of the genome that the RAD data covers...
October 8, 2016: Molecular Ecology Resources
https://www.readbyqxmd.com/read/27716037/impact-of-post-alignment-processing-in-variant-discovery-from-whole-exome-data
#20
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
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