Results 41 to 50 of about 1,835,894 (312)

mccoy-lab/t2t-variants: First release

, 2021
Full Changelog: https://github.com/mccoy-lab/t2t-variants/commits/v1.
Rajiv McCoy, Stephanie Yan, Dylan Taylor
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Crystallographic Texture Analysis of As-Built and Heat-Treated Ti6Al4V (ELI) Produced by Direct Metal Laser Sintering

Crystals, 2020
This paper reports on an investigation of crystallographic texture of as-built and heat-treated Ti6Al4V (ELI) produced by direct metal laser sintering (DMLS). The texture analyses were conducted using electron backscatter diffraction (EBSD).
Amos Muiruri, Maina Maringa, Willie du Preez   +2 more
doaj   +1 more source

Identification of low-frequency TRAF3IP2 coding variants in psoriatic arthritis patients and functional characterization [PDF]

, 2012
Introduction: In recent genome-wide association studies for psoriatic arthritis (PsA) and psoriasis vulgaris, common coding variants in the TRAF3IP2 gene were identified to contribute to susceptibility to both disease entities.
Maria Apel, Böhm, Beate B., Steffen Uebe, Böhm, Beate, Apel, Maria, Behrens, Frank, Harald Burkhardt, Frank Behrens, Burkhardt, Harald, Beate Bohm, Hüffmeier, Ulrike, Ulrike Huffmeier, Reis, André, Uebe, Steffen, Andre Reis   +14 more
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Variants

, 2015
The variants files- both the unfiltered variants as well as the variants used in the ABC ...
Thibaut Capblancq (3289932), Rioux, Delphine, Mavarez, Jesus, Laurence Després (3257427), Jesus Mavarez (3289935), Després, Laurence, Delphine Rioux (3172653), Capblancq, Thibaut   +7 more
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JWES: a new pipeline for whole genome/exome sequence data processing, management, and gene‐variant discovery, annotation, prediction, and genotyping

FEBS Open Bio, 2021
Whole genome and exome sequencing (WGS/WES) are the most popular next‐generation sequencing (NGS) methodologies and are at present often used to detect rare and common genetic variants of clinical significance.
Zeeshan Ahmed, Eduard Gibert Renart, Deepshikha Mishra, Saman Zeeshan   +3 more
doaj   +1 more source

Performance of genotype imputation for rare variants identified in exons and flanking regions of genes. [PDF]

, 2011
Genotype imputation has the potential to assess human genetic variation at a lower cost than assaying the variants using laboratory techniques. The performance of imputation for rare variants has not been comprehensively studied.
Margaret Gelder Ehm, Sharon R. Browning, Slater, Andrew J., Browning, Brian L., Aponte, Jennifer L., Browning Sharon R., Ehm, Margaret Gelder, Stephanie L Chissoe, Whittaker John C., Mooser, Vincent E., Sharon R Browning, Li, Li, Vincent E. Mooser, Jennifer L. Aponte, Brian L Browning, Li Yun, Whittaker, John C., Jennifer L Aponte, Browning, Brian L, Ehm Margaret Gelder, Browning, Sharon R, Whittaker, John C, Nelson, Matthew R, Mooser Vincent E., Aponte, Jennifer L, John C. Whittaker, Matthew R Nelson, Andrew J Slater, Vincent E Mooser, Browning Brian L., Mooser, Vincent E, Nelson Matthew R., Nelson, Matthew R., Li, Yun, John C Whittaker, Yun Li, Chissoe Stephanie L., Browning, Sharon R., Kong Xiangyang, Slater, Andrew J, Chissoe, Stephanie L, Matthew R. Nelson, Chissoe, Stephanie L., Li Li, Andrew J. Slater, Stephanie L. Chissoe, Xiangyang Kong, Slater Andrew J., Kong, Xiangyang, Aponte Jennifer L., Brian L. Browning   +50 more
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Raman Molecular Fingerprints of SARS‐CoV‐2 British Variant and the Concept of Raman Barcode

Advanced Science, 2022
The multiple mutations of the severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) virus have created variants with structural differences in both their spike and nucleocapsid proteins.
Giuseppe Pezzotti, Francesco Boschetto, Eriko Ohgitani, Yuki Fujita, Masaharu Shin‐Ya, Tetsuya Adachi, Toshiro Yamamoto, Narisato Kanamura, Elia Marin, Wenliang Zhu, Ichiro Nishimura, Osam Mazda   +11 more
doaj   +1 more source

Respiratory viruses interacting with cells: the importance of electrostatics

Frontiers in Microbiology, 2023
The COVID-19 pandemic has rekindled interest in the molecular mechanisms involved in the early steps of infection of cells by viruses. Compared to SARS-CoV-1 which only caused a relatively small albeit deadly outbreak, SARS-CoV-2 has led to fulminant ...
Daniel Lauster, Klaus Osterrieder, Rainer Haag, Matthias Ballauff, Andreas Herrmann   +4 more
doaj   +1 more source

Three new Alpha1-Antitrypsin deficiency variants help to define a C-Terminal region regulating conformational change and polymerization [PDF]

, 2012
Alpha1-antitrypsin (AAT) deficiency is a hereditary disorder associated with reduced AAT plasma levels, predisposing adults to pulmonary emphysema.
Fra Anna M., Fra, Anna M, Anna M. Fra (157302), Scabini, Roberta, Federica Benini, Ferrarotti, Ilaria, L. Corda, Corda, Luciano, Scabini R, E. Miranda, LUISETTI, MAURIZIO, Miranda Elena, Benini, Federica, Corda, L., Benini, F., Medicina D, Luciano Corda, Maurizio Luisetti (142908), Luisa Schiaffonati, I. Ferrarotti, Anna M. Fra, Ilaria Ferrarotti (142893), Luisetti M, Gooptu Bibek, Miranda, E., SCHIAFFONATI, Luisa, Gooptu, Bibekbrata, Anna M Fra, Medicina, Daniela, Elena Miranda, Schiaffonati Luisa, Ferrarotti, I., Medicina, D., R. Ronzoni, Luisetti Maurizio, Daniela Medicina, R. Scabini, L. Schiaffonati, Roberta Scabini (157306), Ferrarotti Ilaria, Ronzoni, R., B. Gooptu, Ferrarotti I, Bibek Gooptu (157303), Luciano Corda (157317), F. Benini, Scabini Roberta, Gasset, M., A. M. Fra, MIRANDA BANOS, MARIA ELENA, Fra, A.M., Ilaria Ferrarotti, Medicina Daniela, FRA, Annamaria, RONZONI, Riccardo, Gooptu B, Daniela Medicina (157321), Ronzoni Riccardo, Benini Federica, Miranda, Elena, D. Medicina, Corda Luciano, Maurizio Luisetti, Benini F, Scabini, R., Corda L, Roberta Scabini, Riccardo Ronzoni (157309), Luisa Schiaffonati (157328), Federica Benini (157312), Riccardo Ronzoni, Gooptu, Bibek, Luisetti, M., Schiaffonati, L., Elena Miranda (21508), Bibek Gooptu, Miranda E   +76 more
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Genetic risk variants in intestinal inflammatory disorders [PDF]

, 2010
PhDThis thesis includes work on the genetics of intestinal inflammatory disorders, concentrating on coeliac disease and Crohn’s disease. It explores how common genetic variants influence risk of complex phenotypes including immunological intolerance to
Dubois, Patrick Charles Alexander
core   +3 more sources