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whole exome sequencing

Candidate de novo variants and pathways in asd uncovered by whole-exome sequencing in a south american cohort

Candidate de novo variants and pathways in asd uncovered by whole-exome sequencing in a south american cohort

... According to the results obtained in this pilot study, we believe WES is an adequate technique to analyze de novo mutations that might be related to ASD. The results indicate that it is important to apply next generation ...

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Disseny d'una aplicació web per a la integració, visualització i anàlisi de les dades genòmiques obtingudes del projecte Pan Cancer Whole Genome Sequencing (PCAWGS)

Disseny d'una aplicació web per a la integració, visualització i anàlisi de les dades genòmiques obtingudes del projecte Pan Cancer Whole Genome Sequencing (PCAWGS)

... de wholeexome sequencing (WES), pel que tenir aquestes noves dades on hi trobem milers de mostres analitzades amb WGS, permet explorar més enllà, incloent les zones no codificants del genoma o ...

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Clinical Applications of Next Generation Sequencing

Clinical Applications of Next Generation Sequencing

... to, whole-genome se- quencing (WGS), whole-exome sequencing (WES), transcriptome sequencing, and a variety of targeted sequencing panels designed to analyze specific sets of ...

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Argumentation in Whole-Class Teaching and Science Learning

Argumentation in Whole-Class Teaching and Science Learning

... in whole-class interaction are also effective even when they have different characteristics and may prompt different knowledge construction ...in whole-class discussions it is expected that a greater ...

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A 4D Trajectory Negotiation Protocol for Arrival and Approach Sequencing

A 4D Trajectory Negotiation Protocol for Arrival and Approach Sequencing

... Into this summary, special attention is paid on proposing a new formalized 4D trajectory with twofold features: to be used by different based ground and airborne systems and for extra[r] ...

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15-Second generation nucleic acid sequencing and  bioarchaeology

15-Second generation nucleic acid sequencing and bioarchaeology

... first-generation sequencing (FGS) methodology. Later on, the second-generation sequencing (SGS) of DNA (sometimes described using the ambiguous “next-generation” sequencing terminology; NGS) ...

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Elucidating mechanisms of gene regulation. Integration of high-throughput sequencing data for studying the epigenome

Elucidating mechanisms of gene regulation. Integration of high-throughput sequencing data for studying the epigenome

... Lucas, S., Elkin, C., Uberbacher, E., Frazier, M., Gibbs, R. A., Muzny, D. M., Scherer, S. E., Bouck, J. B., Sodergren, E. J., Worley, K. C., Rives, C. M., Gorrell, J. H., Metzker, M. L., Naylor, S. L., Kucherlapati, R. ...

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El Mirador cave (Sierra de Atapuerca, Burgos, Spain): a whole perspective

El Mirador cave (Sierra de Atapuerca, Burgos, Spain): a whole perspective

... In the fi eld, it was decided to subdivide the succession into stratigraphic units in order to document; not single events, but rather complex events that occurred in a relatively limited time- frame. The criteria used ...

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Robust Car Sequencing Problem: Description, models and metrics

Robust Car Sequencing Problem: Description, models and metrics

... The multi-sequence definition allowed for the concept of robustness to be incorporated in the sequencing problems of mixed models with partial demand uncertainty. Regard-ing the specific case of the r-CSP, 7 ...

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Biomedical research nowadays: questioning society as a whole

Biomedical research nowadays: questioning society as a whole

... Resumen: La segunda revolución biomédica pone en cuestión a la sociedad humana en su totalidad en la medida que le otorga al hombre el dominio de tres sistemas fundamentales: el de la r[r] ...

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Added Value of Deep Sequencing Relative to Population Sequencing in Heavily Pre-Treated HIV-1-Infected Subjects.

Added Value of Deep Sequencing Relative to Population Sequencing in Heavily Pre-Treated HIV-1-Infected Subjects.

... Competing Interests: F. Garcı´a has been a consultant on advisory boards, or has participated in speakers’ bureaus, with Roche, Boehringer-Ingelheim, BMS, GSK, Gilead, Janssen, Merck and Pfizer. R. Delgado has received ...

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Predictors of whole body vibration exposure in motorcycle riders

Predictors of whole body vibration exposure in motorcycle riders

... Design) to determine the main effects caused on whole body vibration exposure limits by the following factors: motorcycle age, engine size, road type and rider weight. The results show that newer motorcycles allow ...

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Respiratory motion compensated high resolution 3D whole heart T1ρ mapping

Respiratory motion compensated high resolution 3D whole heart T1ρ mapping

... expiration are selected by peak analysis of the FH mo- tion. The average of FH motion at the selected end- expiration frames is calculated and the iNAV frame of which the FH motion is closest to the average is selected ...

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From sequencing to hardware acceleration of DNA alignment software: A integral review

From sequencing to hardware acceleration of DNA alignment software: A integral review

... Las lecturas obtenidas de los instrumentos de secuenciación de cualquier generación son demasiado cortas como para cubrir regiones de interés en investigación genómica, por lo que fue necesario el desarrollo de métodos ...

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A framework for genomic sequencing on clusters of multicore and manycore processors

A framework for genomic sequencing on clusters of multicore and manycore processors

... DNA sequencing technologies, also known as next generation sequencing (NGS), have unleashed an unprecedented revolution in ...transcriptome sequencing into a matter of days, instead of years, with ...

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Evaluation and additional recommendations for preparing a whole blood control material

Evaluation and additional recommendations for preparing a whole blood control material

... Material and Method Aliquots of stabilized whole blood were prepared by partial fixation with aldehydes; the stability at different temperatures (4. 20 and 37 °C) during periods of up to 8-9 weeks and aliquot ...

6

Effect of fibers and whole grain content on quality attributes

Effect of fibers and whole grain content on quality attributes

... OCT made it possible to visualize the quality of coating (when observing dry pellets) and to follow the rehydration process of extruded cereals in milk: the collapse of the structure th[r] ...

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TítuloEffect of whole body vibration in Parkinson's disease: a controlled study

TítuloEffect of whole body vibration in Parkinson's disease: a controlled study

... In the search of new strategies to improve the quality of life of Parkinson's disease patients, recent work has reported an amelioration of Parkinsonian symptoms using Whole Body Vibration (WBV). A double-blinded, ...

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Teaching a Whole English Language Course to First Year Undergraduate Students

Teaching a Whole English Language Course to First Year Undergraduate Students

... The percentage distribution of these language skills in the final exam is as follows: Use of English: 40%, Reading: 15%, Listening: 15%, Writing: 10% and Oral Exam: 20%, The Use of Engli[r] ...

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