نتائج البحث - "Whole Genome Sequencing"

1

Chromothripsis as a pathogenic driver of multiple myeloma

المؤلفون: Hussein Ghamlouch, Marc Braunstein, Yubao Wang, Ben Diamond, James H. Stoeckle, Louis Williams, David Kaminetzky, Faith E. Davies, Cody Ashby, Eileen M Boyle, Gareth J. Morgan, Michael A Bauer, Kylee H Maclachlan, Francesco Maura, Benedetto Bruno, Patrick Blaney, Even H. Rustad, Ola Landgren, Brian A Walker

المصدر: Seminars in Cell & Developmental Biology. 123:115-123

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0a3239c0323d401a0e11599af3083dc3
https://doi.org/10.1016/j.semcdb.2021.04.014

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2

Independent DSG4 frameshift variants in cats with hair shaft dystrophy

المؤلفون: Sarah Kiener, Ana Rostaher, Silvia Rüfenacht, Vidhya Jagannathan, John P. Sundberg, Monika Welle, Tosso Leeb

المساهمون: University of Zurich, Leeb, Tosso

المصدر: Molecular Genetics and Genomics
Kiener, Sarah; Rostaher, Ana; Rüfenacht, Silvia; Jagannathan, Vidhya; Sundberg, John P.; Welle, Monika; Leeb, Tosso (2022). Independent DSG4 frameshift variants in cats with hair shaft dystrophy. Molecular genetics and genomics : MGG, 297(1), pp. 147-154. Springer 10.1007/s00438-021-01842-6 <http://dx.doi.org/10.1007/s00438-021-01842-6>

مصطلحات موضوعية: 10253 Department of Small Animals, 610 Medicine & health, Dermatology, Lanceolate, Cat Diseases, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, 1311 Genetics, 1312 Molecular Biology, Genetics, Animals, Felis catus, Genodermatosis, Animal Fur, Frameshift Mutation, Molecular Biology, Skin, 030304 developmental biology, Whole-genome sequencing, 0303 health sciences, Base Sequence, Whole Genome Sequencing, 630 Agriculture, integumentary system, Homozygote, Hair shaft dysplasia, Alopecia, General Medicine, Codon, Nonsense, Case-Control Studies, Cats, 590 Animals (Zoology), 570 Life sciences, biology, Original Article, Desmogleins, Hair Diseases, Hair Follicle

وصف الملف: ZORA_s00438_021_01842_6.pdf - application/pdf; application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8d58959b9d3671a5aa1cf33bc7df8930
https://doi.org/10.1007/s00438-021-01842-6

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3

An accessible, efficient and global approach for the large-scale sequencing of bacterial genomes

المؤلفون: Jay C. D. Hinton, Ross Low, Blanca M. Perez-Sepulveda, J Lipscombe, Kate S. Baker, Nicholas A. Feasey, Hermione J. Webster, Will P. M. Rowe, Darren Heavens, Chris Watkins, Benjamin Kumwenda, Christian Schudoma, Karl Costigan, Caisey V. Pulford, Neil Hall, Alexander V. Predeus, Neil Shearer

المصدر: Genome Biology, Vol 22, Iss 1, Pp 1-18 (2021)
GENOME BIOLOGY
The 10KSG consortium 2021, ' An accessible, efficient and global approach for the large-scale sequencing of bacterial genomes ', Genome Biology, vol. 22, no. 1, 349 . https://doi.org/10.1186/s13059-021-02536-3
Genome Biology

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89262adc716ecef3c4ca6f473324abb7
https://doaj.org/article/80aa466e1a3f4e9db011fe11270b93a1

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4

Whole genome sequencing of Salmonella enterica serovar Saintpaul for elucidating the mechanisms of resistance to third generation cephalosporins

المؤلفون: Raymond T. P. Lin, Ka Lip Chew, Sophie Octavia, Jeanette W. P. Teo

المصدر: Pathology. 53:768-772

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::052994a17f1331c5acc6077e52339485
https://doi.org/10.1016/j.pathol.2020.12.007

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5

First importations of SARS-CoV-2 P.1 and P.2 variants from Brazil to Spain and early community transmission

المؤلفون: Pilar Catalán, Cristina Rodríguez-Grande, Darío García de Viedma, Carla Rico-Luna, Patricia Muñoz, Laura Pérez-Lago, Cristina Andrés-Zayas, Sergio Buenestado-Serrano, Carmen Losada, Luis Alcalá, Pedro J Sola Campoy

المصدر: Enfermedades Infecciosas Y Microbiologia Clinica

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66320ec34b74bccc655854c34af341f3
https://doi.org/10.1016/j.eimce.2021.05.015

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6

Coexistence of two blaCTX-M-14 genes in a blaNDM-5-carrying multidrug-resistant Escherichia coli strain recovered from a bloodstream infection in China

المؤلفون: Meina Yue, Jun Zhang, Zhi Ruan, Wei Zheng

المصدر: Journal of Global Antimicrobial Resistance, Vol 26, Iss, Pp 11-14 (2021)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af6527f68983d42af3add741835b6f91
https://doi.org/10.1016/j.jgar.2021.05.002

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7

Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program

المصدر: Genome Medicine, Vol 13, Iss 1, Pp 1-17 (2021)
Genome medicine, vol 13, iss 1
Genome Medicine

مصطلحات موضوعية: Male, Genome-wide association study, QH426-470, Genome, 0302 clinical medicine, and Blood Institute (U.S.), 2.1 Biological and endogenous factors, GWAS, Precision Medicine, Aetiology, Lung, Genetics (clinical), X chromosome, Genetics, 0303 health sciences, Sleep apnea, Phenotype, 3. Good health, medicine.anatomical_structure, Chromatin Immunoprecipitation Sequencing, Molecular Medicine, Medicine, Female, Sleep Research, Signal Transduction, Genotype, Sequence analysis, Clinical Sciences, Biology, TOPMed Sleep Working Group, 03 medical and health sciences, Sleep Apnea Syndromes, NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium, medicine, Humans, Genetic Predisposition to Disease, Dental/Oral and Craniofacial Disease, Craniofacial, Association (psychology), Sleep-disordered breathing, Molecular Biology, Gene, Alleles, Genetic Association Studies, 030304 developmental biology, Whole-genome sequencing, Whole Genome Sequencing, Family structure, Research, Human Genome, National Heart, medicine.disease, United States, Genetic architecture, DNA binding site, Good Health and Well Being, Gene Expression Regulation, Sleep disordered breathing, National Heart, Lung, and Blood Institute (U.S.), 030217 neurology & neurosurgery, WGS

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f07857532957b8dd0ce9fc648d1f63d7
https://doaj.org/article/9b0744973c104537a83fb72db6105928

8

Whole genome sequencing of nearly isogenic WMI and WLI inbred rats identifies genes potentially involved in depression and stress reactivity

المؤلفون: Panjun Kim, Tristan V. de Jong, Megan K. Mulligan, Robert W. Williams, Eva E. Redei, Victor Guryev, Hao Chen

المساهمون: Groningen Research Institute for Asthma and COPD (GRIAC)

المصدر: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-11 (2021)
Scientific Reports, 11(1), 1-11. Nature Publishing Group

مصطلحات موضوعية: 0301 basic medicine, Male, Science, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Rats, Inbred WKY, Article, 03 medical and health sciences, 0302 clinical medicine, INDEL Mutation, Polymorphism (computer science), Genetics, Animals, Gene Regulatory Networks, Indel, Gene, Whole genome sequencing, Genetic diversity, Multidisciplinary, Whole Genome Sequencing, Depression, Strain (biology), Genetic Variation, High-Throughput Nucleotide Sequencing, Rats, Inbred Strains, Phenotype, Rats, Disease Models, Animal, 030104 developmental biology, Behavioural genetics, Next-generation sequencing, Medicine, Female, 030217 neurology & neurosurgery, Stress, Psychological

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::288d6b51e116aaf9daab0aa469698ab5
https://doi.org/10.1038/s41598-021-92993-4

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9

Deep learning prediction of attention-deficit hyperactivity disorder in African Americans by copy number variation

المؤلفون: Yichuan Liu, Lifeng Tian, Patrick M. A. Sleiman, Joseph T. Glessner, Jingchun Qu, Kenny Nguyen, Hakon Hakonarson, Xiao Chang, Hui-Qi Qu

المصدر: Exp Biol Med (Maywood)

مصطلحات موضوعية: Male, 0301 basic medicine, DNA Copy Number Variations, Computational biology, Biology, General Biochemistry, Genetics and Molecular Biology, Young Adult, 03 medical and health sciences, Deep Learning, 0302 clinical medicine, 030225 pediatrics, medicine, Humans, Attention deficit hyperactivity disorder, Genetic Predisposition to Disease, Copy-number variation, Original Research, Whole genome sequencing, Whole Genome Sequencing, Mechanism (biology), business.industry, Deep learning, Reproducibility of Results, medicine.disease, Black or African American, Molecular network, 030104 developmental biology, Attention Deficit Disorder with Hyperactivity, Case-Control Studies, Female, Artificial intelligence, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1402b41fb850512286b492cfbf73d4c0
https://doi.org/10.1177/15353702211018970

10

Whole genome sequencing and phylogenetic analysis of six SARS-CoV-2 strains isolated during COVID-19 pandemic in Tunisia, North Africa

المساهمون: Laboratoire de Virologie Clinique, Référence Régional OMS pour la Poliomyélite et la Rougeole - Laboratory of Clinical Virology, WHO Regional Reference Laboratory on Poliomyelitis and Measles, Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP)-Organisation Mondiale de la Santé / World Health Organization Office (OMS / WHO), Université de Tunis El Manar (UTM), Laboratoire de Bioinformatique, biomathématiques, biostatistiques (BIMS) (LR11IPT09), Université de Tunis El Manar (UTM)-Institut Pasteur de Tunis, Réseau International des Instituts Pasteur (RIIP)-Réseau International des Instituts Pasteur (RIIP), Cellule d'Intervention Biologique d'Urgence (Centre National de Référence) - Laboratory for Urgent Response to Biological Threats (National Reference Center) (CIBU), Environnement et Risques infectieux - Environment and Infectious Risks (ERI), Institut Pasteur [Paris] (IP)-Institut Pasteur [Paris] (IP), Ministère de la santé Publique [Tunisie], This work was supported by the Tunisian Ministry of High Education and Research and the MediLabSecure Project, founded by the European Commission (DEVCO: IFS/2018/402–247).

المصدر: BMC Genomics, Vol 22, Iss 1, Pp 1-6 (2021)
BMC Genomics
BMC Genomics, 2021, 22 (1), pp.540. ⟨10.1186/s12864-021-07870-1⟩

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::283352e568b9ed424378c3b9bed12b76
https://doaj.org/article/10b69379018d4c99943122d59f3d5118

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