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Results: 293
Genotyping structural variants in pangenome graphs using the vg toolkit.
Glenn Hickey, David Heller, Jean Monlong, Jonas A Sibbesen, Jouni Sirén, Jordan Eizenga, Eric T Dawson, Erik Garrison, Adam M Novak, Benedict Paten
Mar 15, 2020
Structural variants (SVs) remain challenging to represent and study relative to point mutations despite their demonstrated importance. We show that variation graphs, as implemented in the vg toolkit, provide an effective means...
Published by: Genome biology
Genotyping structural variants in pangenome graphs using the vg toolkit.
Glenn Hickey, David Heller, Jean Monlong, Jonas A Sibbesen, Jouni Sirén, Jordan Eizenga, Eric T Dawson, Erik Garrison, Adam M Novak, Benedict Paten
Feb 11, 2021
Structural variants (SVs) remain challenging to represent and study relative to point mutations despite their demonstrated importance. We show that variation graphs, as implemented in the vg toolkit, provide an effective means...
Genotyping structural variants in pangenome graphs using the vg toolkit
Glenn Hickey, David Heller, Jean Monlong, Jonas A. Sibbesen, Jouni Sirén, Jordan Eizenga, Eric T. Dawson, Erik Garrison, Adam M. Novak, Benedict Paten
Jun 06, 2020
Abstract: Structural variants (SVs) remain challenging to represent and study relative to point mutations despite their demonstrated importance. We show that variation graphs, as implemented in the vg toolkit, provide an...
A new approach to define and diagnose cardiometabolic disorder in children.
Lars Bo Andersen, Jeppe Bo Lauersen, Jan Christian Brønd, Sigmund Alfred Anderssen, Luis B Sardinha, Jostein Steene-Johannessen, Robert G McMurray, Mauro VG Barros, Susi Kriemler, Niels Christian Møller, Anna Bugge, Peter Lund Kristensen, Mathias Ried-Larsen, Anders Grøntved, Ulf Ekelund
Aug 28, 2017
Persistence of haemostatic response following gene therapy with valoctocogene roxaparvovec in severe haemophilia A.
K John Pasi, Michael Laffan, Savita Rangarajan, Tara M Robinson, Nina Mitchell, Will Lester, Emily Symington, Bella Madan, Xinqun Yang, Benjamin Kim, Glenn F Pierce, Wing Yen Wong
Nov 08, 2021
INTRODUCTION: Valoctocogene roxaparvovec is an investigational AAV5-based factor VIII (FVIII) gene therapy that has demonstrated sustained clinical benefit in people with severe haemophilia A. AIM: To report safety...
Removing reference bias and improving indel calling in ancient DNA data analysis by mapping to a sequence variation graph
Abstract: Background: During the last decade, the analysis of ancient DNA (aDNA) sequence has become a powerful tool for the study of past human populations. However, the degraded nature of aDNA means that aDNA molecules are...
Haplotype-aware graph indexes.
MOTIVATION: The variation graph toolkit (VG) represents genetic variation as a graph. Although each path in the graph is a potential haplotype, most paths are non-biological, unlikely recombinations of true haplotypes. RESULTS...
Removing reference bias and improving indel calling in ancient DNA data analysis by mapping to a sequence variation graph.
BACKGROUND: During the last decade, the analysis of ancient DNA (aDNA) sequence has become a powerful tool for the study of past human populations. However, the degraded nature of aDNA means that aDNA molecules are short and...
Removing reference bias and improving indel calling in ancient DNA data analysis by mapping to a sequence variation graph
Abstract: Background: During the last decade, the analysis of ancient DNA (aDNA) sequence has become a powerful tool for the study of past human populations. However, the degraded nature of aDNA means that aDNA molecules are...
The onset of penetrative convection in an inclined porous layer
In the present article, a model for penetrative convection in a fluid-saturated inclined porous medium is analyzed. Penetrative convection occurs when an unstably stratified fluid moves into a stably stratified region. In...
Chebyshev-tau method Inclined layer Instability analysis Nonlinear stability Penetrative convection porous media /dk/atira/pure/subjectarea/asjc/3100/3104 name=Condensed Matter Physics /dk/atira/pure/subjectarea/asjc/2200/2210 name=Mechanical Engineering /dk/atira/pure/subjectarea/asjc/1500/1507 name=Fluid Flow and Transfer Processes
Hidden in Plain Sight
Mauro Lubrano
Mar 31, 2024
Anti-government extremism (AGE) stands as a significant contemporary manifestation of political violence. As such, recent scholarly publications have sought to provide novel conceptualisations and analyses of this phenomenon....
Anti-government extremism anti-state Conspiracy of the Cells of Fire Informal Anarchist Federation insurrectionary anarchism political violence terrorism /dk/atira/pure/subjectarea/asjc/3300/3311 name=Safety Research /dk/atira/pure/subjectarea/asjc/3300/3320 name=Political Science and International Relations /dk/atira/pure/subjectarea/asjc/3300/3308 name=Law /dk/atira/pure/sustainabledevelopmentgoals/peace_justice_and_strong_institutions name=SDG 16 - Peace, Justice and Strong Institutions
Dendrochronological evidence for long-distance timber trading in the Roman Empire.
An important question for our understanding of Roman history is how the Empire's economy was structured, and how long-distance trading within and between its provinces was organised and achieved. Moreover, it is still unclear...
Magnetotransport and magnetic properties of amorphous [Formula
Carla Cirillo, Carlo Barone, Harry Bradshaw, Francesca Urban, Angelo Di Bernardo, Costantino Mauro, Jason WA Robinson, Sergio Pagano, Carmine Attanasio
Aug 13, 2021
[Formula: see text] is an intermetallic compound with a bulk Curie temperature ([Formula: see text]) of 6-13 K. While existing studies have focused on [Formula: see text] crystals, amorphous thin-films of [Formula: see text] are...
Simulation of multistage compressor at off-design conditions
Computational fluid dynamics (CFD) has been widely used for compressor design, yet the prediction of performance and stage matching for multistage, high-speed machines remains challenging. This paper presents the authors'...
Improving the Efficiency of a Public Health Service by Designing Its Innovation Management Structure Based on Data Envelopment Analysis
This paper presents a proposal for Chile's health system innovation structure based on a formal service design approach, including management and process architecture definition. Such structure defines how to allocate innovation...
Published by: IGI Global Scientific Publishing
Affect-Driven Learning of Robot Behaviour for Collaborative Human-Robot Interactions.
Collaborative interactions require social robots to share the users' perspective on the interactions and adapt to the dynamics of their affective behaviour. Yet, current approaches for affective behaviour generation in robots...
Parenting and child mental health during the COVID-19 pandemic
COVID-19 and the subsequent public health response created many additional stresses for families. We examined parental behaviour during the COV-ID-19 pandemic in two European Countries and explored the association between...
child’s anxiety child’s quality of life covid-19 Parenting /dk/atira/pure/subjectarea/asjc/2700/2735 name=Pediatrics, Perinatology, and Child Health /dk/atira/pure/subjectarea/asjc/3200/3205 name=Experimental and Cognitive Psychology /dk/atira/pure/subjectarea/asjc/3200/3204 name=Developmental and Educational Psychology /dk/atira/pure/subjectarea/asjc/3200/3203 name=Clinical Psychology /dk/atira/pure/subjectarea/asjc/2700/2738 name=Psychiatry and Mental health /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being name=SDG 3 - Good Health and Well-being
A Management and Enterprise Architecture Framework for Comprehensive Structure Design of Complex Services
Oscar Barros
Jan 01, 2022
This paper centers on the full structure design of firms providing complex services, like health, which include the production flow, its management, and flows components. This work proposes a full design solution, improving on...
Published by: IGI Global Scientific Publishing
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