Results 71 to 80 of about 715,750 (339)

Crucial parameters for precise copy number variation detection in formalin‐fixed paraffin‐embedded solid cancer samples

Molecular Oncology, EarlyView.
This study shows that copy number variations (CNVs) can be reliably detected in formalin‐fixed paraffin‐embedded (FFPE) solid cancer samples using ultra‐low‐pass whole‐genome sequencing, provided that key (pre)‐analytical parameters are optimized.
Hanne Goris, Vasiliki Siozopoulou, Léon C van Kempen, Anne Sieben, Ella Roelant, Stig Hellemans, Elyne Backx, Laure Sorber, Koen De Winne, Senada Koljenović, Karen Zwaenepoel   +10 more
wiley   +1 more source

Single Nucleotide Polymorphism (SNP) และ DNA Polymorphisms

Journal of Associated Medical Sciences, 2015
-
Songyot Anuchapreeda
doaj  

Oxytocin receptor single nucleotide polymorphism predicts atony-related postpartum hemorrhage

BMC Pregnancy and Childbirth, 2022
Background Postpartum hemorrhage remains a key contributor to overall maternal morbidity in the United States. Current clinical assessment methods used to predict postpartum hemorrhage are unable to prospectively identify about 40% of hemorrhage cases ...
Elise N. Erickson, Kathleen M. Krol, Allison M. Perkeybile, Jessica J. Connelly, Leslie Myatt   +4 more
doaj   +1 more source

High-Resolution Single Nucleotide Polymorphism Analysis Distinguishes Recrudescence and Reinfection in Recurrent Invasive Nontyphoidal Salmonella Typhimurium Disease

Clinical Infectious Diseases, 2012
Invasive nontyphoidal Salmonella Typhimurium disease is a common and frequently recurrent cause of bacteremia across sub-Saharan Africa. We use high-resolution single nucleotide polymorphism analysis to distinguish between reinfection and recrudescence ...
Chinyere K. Okoro, R. Kingsley, M. Quail, A. Kankwatira, N. Feasey, J. Parkhill, G. Dougan, M. Gordon   +7 more
semanticscholar   +1 more source

Use of partial least squares regression to impute SNP genotypes in Italian Cattle breeds [PDF]

, 2013
Background The objective of the present study was to test the ability of the partial least squares regression technique to impute genotypes from low density single nucleotide polymorphisms (SNP) panels i.e. 3K or 7K to a high density panel with 50K SNP.
AJ Chamberlain, APW de Roos, BJ Hayes, BJ Hayes, BJ Hayes, BL Browning, C Dimauro, C Hagger, Corrado Dimauro, D Boichard, D Segelke, DP Berry, G Li, G Moser, Gabriele Marras, GCB Schopen, Giustino Gaspa, H Abdi, HA Mulder, HD Daetwyler, I Medugorac, J Chen, JE Pryce, JM Hickey, K Kizilkaya, KA Weigel, KA Weigel, Massimo Cellesi, Nicolò PP Macciotta, P Ajmone-Marsan, P Scheet, Paolo Ajmone-Marsan, PM VanRaden, R Dassonneville, R Dassonneville, Roberto Steri, T Druet, T Druet, TH Meuwissen, Z Zhang   +39 more
core   +3 more sources

Evolutionary dynamics of the chloroplast genome in Daphne (Thymelaeaceae): comparative analysis with related genera and insights into phylogenetics

FEBS Open Bio, EarlyView.
Comparative analysis of chloroplast genomes from 14 genera of Thymelaeaceae revealed variation in gene content, ranging from 128 to 142 genes, primarily influenced by IR expansion/contraction events and pseudogenization of ndhF, ndhI, and ndhG. Two large inversions were detected within the large single‐copy region, including a synapomorphic inversion ...
Abdullah, Hui Li, Rushan Yan, Chengyu Chen, Madiha Islam, Abdul Majid, Ibrar Ahmed, Parviz Heidari, Xiaoxuan Tian   +8 more
wiley   +1 more source

PLA2R1 and HLA-DQA1 SNP in patients with primary membranous nephropathy.

PLoS ONE
BackgroundPrimary membranous nephropathy is a widely recognized autoimmune disease associated with podocyte antigens; the most important autoantigen is PLA2R1. PLA2R1 and HLA-DQA1 play important roles in the production of pathogenic antibodies.
Junyi Zhou, Zhijian Zhang, Kezhi Zhou, Leting Zhou, Jing Xue, Bin Liu, Xiran Zhang, Ting Cai, Biao Huang, Yi Zhang, Zhigang Hu, Liang Wang, Xiaobin Liu   +12 more
doaj   +1 more source

Large-Scale Development of Cost-Effective Single-Nucleotide Polymorphism Marker Assays for Genetic Mapping in Pigeonpea and Comparative Mapping in Legumes

DNA Research, 2012
Single-nucleotide polymorphisms (SNPs, >2000) were discovered by using RNA-seq and allele-specific sequencing approaches in pigeonpea (Cajanus cajan). For making the SNP genotyping cost-effective, successful competitive allele-specific polymerase chain ...
R. Saxena, R. Penmetsa, H. Upadhyaya, Ashish Kumar, N. Carrasquilla-Garcia, J. Schlueter, A. Farmer, Adam M. Whaley, B. K. Sarma, B. K. Sarma, G. May, D. Cook, R. K. Varshney, R. Varshney   +13 more
semanticscholar   +1 more source

Low-density genotype panel for both parentage verification and discovery in a multi-breed sheep population [PDF]

, 2019
peer-reviewedThe generally low usage of artificial insemination and single-sire mating in sheep, compounded by mob lambing (and lambing outdoors), implies that parentage assignment in sheep is challenging.
Berry, Donagh, McDermott, K., McHugh, Noirin, O’Brien, A.C., Wall, E.   +4 more
core   +1 more source

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

FEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon, Angéla Békesi, Latifa Kazzazy, Jázmin Mihály, Máté Varga, Beáta G. Vértessy, Kinga Nyíri   +6 more
wiley   +1 more source