Results 91 to 100 of about 6,146,275 (314)

MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis.

Journal of Molecular Diagnostics, 2018
Interpretation of next-generation sequencing constitutes the main limitation of molecular diagnostics. In diagnosing myopathies and muscular dystrophies, another issue is efficiency in predicting the pathogenicity of variants identified in large genes ...
K. Yauy, D. Baux, H. Pégeot, C. Van Goethem, C. Mathieu, T. Guignard, Raúl Juntas Morales, D. Lacourt, M. Krahn, V. Lehtokari, G. Bonne, S. Tuffery-Giraud, M. Koenig, M. Cossée   +13 more
semanticscholar   +1 more source

Structural and biochemical analysis of a B12 superbinder

FEBS Letters, EarlyView.
BtuG proteins are vitamin B12 scavengers in Bacteroides thetaiotaomicron, a dominant human gut bacterium. We present crystal structures of three BtuG homologs bound to cobalamin and its precursor cobinamide, revealing picomolar binding affinities, among the highest known for any natural protein.
Jose M. Martinez Felices, Jacob J. Whittaker, Dirk J. Slotboom, Albert Guskov   +3 more
wiley   +1 more source

A genetic variation map for chicken with 2.8 million single-nucleotide polymorphisms [PDF]

, 2004
We describe a genetic variation map for the chicken genome containing 2.8 million single-nucleotide polymorphisms (SNPs). This map is based on a comparison of the sequences of three domestic chicken breeds (a broiler, a layer and a Chinese silkie) with ...
Wilson, Richard K, Wei, D, Lan, F, Rothwell, L, Zheng, Weimou, Webber, Caleb, Boardman, Paul E., Ponting, Chris, Yang, Xu, Huang, Xiangang, Wei, Dong Qing, Wei, N, Zheng, Hongkun, Bovenhuis, Henk, Wang, J., Brandström, M, Warren, Wesley, Lin, Wei, Liu, Bin, Chen, Chen, Zhang, Zhenpeng, Zhao, W, Huang, Yanqing, Sun, Yongqiao, Zhao, Y, Hu, SN, Ni, PX, Ni, Peixiang, Hao, Bailin, Gordon, Laurie, Wilson, Richard K., Crooijmans, Richard P. M. A., Xie, Fei, Lan, FD, de Koning, Dirk-Jan, Young, John R, Crooijmans, R.P.M.A., Burt, DW, Cheng, Hans H., Wang, XL, Wahlberg, P, Li, Guoqing, Li, Guangyun, Kindlund, E, Aerts, Andrea, Hao, BL, Lamont, Susan J., Zhou, Jun, H, Li, Ruiqiang, Qi, Qiuhui, van der Poel, Jan, Wang, J, Zeng, CQ, Wang, M, Wang, P, Zhao, Wenming, Li, RQ, Glavina, Tijana, Groenen, Martien, Lamont, Susan, Wang, X, Wang, JJ, Zhou, Yan, Li, Ning, Kindlund, Ellen, Wang, Jian, Overton, IM, Dai, Mmingtao, Morrice, Dvaid, Zhang, Yunze, Rogers, S, Young, John, Li, SG, Hunt, H, Wei, Dong, Zhang, Y, Zhang, X, Zhang, Z, Tong, Wei, Groenen, Martien A M, Yang, Zheng, Wong, Gane Ka-Shu, Wang, Xiaoling, Yu, Yingpu, Liu, B, Burt, David W., Wang, Pei, Tong, W, Li, ST, Zhang, J, Qi, Q, Cheng, HH, Hocking, Paul M, de Koning, DJ, Meng, QS, Land, Fengdi, Li, Songgang, Tang, Haizhou, Wang, MH, Cheng, Hans, He, XM, Ovcharenko, I, Crooijmans, Richard, Morrice, David, van der Poel, Jan J, Walker, Brian, Ye, Chen, Ellegren, Hans, Tammi, Martti T., Yu, Jun, Aerts, A, Kaiser, P, Yu, YP, Wang, Xioaling, Li, Heng, Zhang, Xiaowei, Wilson, SA, Bartly, Neil, Wilson, Stuart A., Shi, Jianping, Dong, Le, Lucas, Susan, He, Ximiao, Hillier, LaDeana, Webber, C, Young, JR, ?, ?, Bartley, Neil, Warren, WC, van der Poel, JJ, Wilson, RK, Walker, Brian A., Li, N, Ovcharenko, Ivan, Li, J, Li, H, Yang, SP, Li, G, Overton, Ian M., Li, D, Zhang, Zengjin, Ran, Longhua, Hillier, LaDeana W., Lamont, SJ, Bartley, N, Qi, QH, Walker, BA, Lucas, S, Stubbs, Lisa, Huang, X, Huang, Y, Burt, David, Andersson, Leif, Wang, Jun, Overton, Ian M; id_orcid, Li, Jun, Crooijmans, Richard P M A, Huang, Xingang, Li, Y, Andersson, Björn, Lin, W, Li, W, Wong, GKS, Brandström, Mikael, Li, S, Young, John R., Li, R, Bovenhuis, H., He, X, van der Poel, J.J., Zhang, XW, Hocking, PM, Ran, LH, Gordon, L, Rogers, Sally L, Tammi, Martti, Zeng, C, Dai, MT, Li, GY, Bumstead, N, He, DD, Liu, B., Bovenhuis, H, Yang, N, Wilson, Stuart, Yang, H, Burt, David W, Yang, Huanming, Stubbs, L, Hubbard, Simon, Hillier, LW, Groenen, M.A.M., Wahlberg, Per, Yang, Z, Kaiser, Pete, Xi, Yan, Hu, Songnian, Yang, X, Zhao, WM, Walker, Brian A, van Hateren, A, Zhang, Jianguo, He, D, Lamont, Susan J, Hocking, Paul, Li, YZ, Hu, S, Zhang, Yong, Rothwell, Lisa, Huang, YQ, Li, Wenjie, Wong, GK, Zhang, JG, Zhang, ZJ, Zhang, ZP, Zhang, Jingjing, Li, Shengting, Wong, G.K., Rogers, Sally, Wang, Jianjun, Hunt, Henry, Cheng, Hans H, Zhang, YZ, Li, Guangyuan, Ponting, CP, Gunnarsson, U, Hubbard, Simon J, Zhao, Yiqiang, Tammi, Martti T, Glavina, T, Wong, Gane, Ruan, J, Hubbard, SJ, Yang, Shiaw-Pyng, Boardman, Paul E, Xie, F, Hao, B, Yang, Shuaw-Pyng, Overton, Ian, Boardman, Paul, Yu, J, Wilson, Richard, Law, Andy, Hillier, Ladeana W, Zhang, Zhi-Yong, Zhou, Y, Bumstead, Nat, Ran, L, Hocking, Paul M., Zheng, HK, Zhou, J, Meng, Q, Zhou, H, Lan, Fengdi, Ye, Jia, Tammi, MT, van Hateren, Andy, Kaufman, J, Ponting, Chris P., Dai, Mingtao, He, Dandan, Li, Dawei, Li, DW, Huang, XG, Consortium, International Chicken Polymorphism Map, Chen, Jie, Wang, Miaoheng, Warren, Wesley C, Kaufman, Jim, Yu, Y, Law, A, Ye, C, Shi, JP, Morrice, D, Zhang, JJ, Warren, Wesley C., Xi, Y, Groenen, Martien A. M., Ye, J, Yang, Ning, Wei, Ning, Ellegren, H, Tang, H, Wilson, Stuart A, Ponting, Chris; id_orcid, Andersson, B, Zheng, WM, Zheng, H, Shi, J, Groenen, MA, Gunnarsson, Ulrika, Zeng, Changqing, Chen, J, Ruan, Jue, Li, Yuanzhe, Boardman, PE, Sun, YQ, Ponting, Chris P, Ni, P, Chen, C, Zheng, W, Andersson, L, Poel, J.J., van der, Dong, Wei, Crooijmans, RP, Zhao, YQ, van der Poel, Jan J., Hubbard, Simon; id_orcid, Overton, Ian M, Zhou, Huaijun, Li, WJ, Wang, Jing, Dong, W, Hubbard, Simon J., Meng, Qingshun, Li, GQ, Dong, L, Sun, Y, Dai, M   +319 more
core   +1 more source

Single-nucleotide variants in human RNA: RNA editing and beyond

Briefings in Functional Genomics, 2018
AbstractThrough analysis of paired high-throughput DNA-Seq and RNA-Seq data, researchers quickly recognized that RNA-Seq can be used for more than just gene expression quantification. The alternative applications of RNA-Seq data are abundant, and we are particularly interested in its usefulness for detecting single-nucleotide variants, which arise from
Yan, Guo, Hui, Yu, David C, Samuels, Wei, Yue, Scott, Ness, Ying-Yong, Zhao   +5 more
openaire   +3 more sources

Genotyping single point mutations in rd1 and rd8 mice using melting curve analysis of qPCR fragments

Scientific Reports
PCR is tolerant to single nucleotide mismatches. Therefore, genotyping of point mutations by PCR requires special conditions for the amplification of allele-specific PCR fragments.
Melanie E. Schwämmle, Felicitas Bucher, Günther Schlunck, Gottfried Martin   +3 more
doaj   +1 more source

Single nucleotide variants within heart enhancers increase binding affinity and disrupt heart development

Developmental Cell, 2023
Summary: Transcriptional enhancers direct precise gene expression patterns during development and harbor the majority of variants associated with phenotypic diversity, evolutionary adaptations, and disease.
Granton A. Jindal, Alexis T. Bantle, Joe J Solvason, Jessica L Grudzien, Agnieszka D'Antonio-Chronowska, Fabian Lim, Sophia H Le, Benjamin P Song, Michelle Franc Ragsac, A. Klie, Reid O. Larsen, K. Frazer, E. Farley   +12 more
semanticscholar   +1 more source

From junk to function — How weak selection in eukaryotes builds new parts and drives genomic complexity

FEBS Letters, EarlyView.
How do genomes gain new functional parts? In eukaryotes, which tend to evolve under weak selection, much of the genome is junk. Palazzo and Qiu borrow the logic of Markov chains to show how non‐functional DNA becomes functional through the appearance of intermediate states, which arise due to epistasis, buffering, and biochemical messiness, allowing ...
Alexander F. Palazzo, Yi Qiu
wiley   +1 more source

RareVar: A Framework for Detecting Low-Frequency Single-Nucleotide Variants [PDF]

Journal of Computational Biology, 2017
Accurate identification of low-frequency somatic point mutations in tumor samples has important clinical utilities. Although high-throughput sequencing technology enables capturing such variants while sequencing primary tumor samples, our ability for accurate detection is compromised when the variant frequency is close to the sequencer error rate. Most
Yangyang Hao, Xiaoling Xuei, Lang Li 0001, Harikrishna Nakshatri, Howard J. Edenberg, Yunlong Liu   +5 more
openaire   +2 more sources

Efficient detection of single nucleotide variants in targeted genomic loci

Development, Growth & Differentiation
AbstractSingle nucleotide variants (SNVs), including single nucleotide polymorphisms, are often associated with morphological and/or physiological abnormalities in various organisms. Targeted genomic DNA can be amplified and directly sequenced to detect these mutations, but this method is relatively time consuming and expensive. We recently established
Ryota Sone, Saori Fujimaki, Atsuo Kawahara   +2 more
openaire   +4 more sources

Prenatal Diagnosis of 17p11.2 Copy Number Abnormalities Associated With Smith–Magenis and Potocki–Lupski Syndromes in Fetuses

Frontiers in Genetics, 2021
Smith-Magenis syndrome and Potocki-Lupski syndrome are rare autosomal dominant diseases. Although clinical phenotypes of adults and children have been reported, fetal ultrasonic phenotypes are rarely reported.
Meiying Cai, Xianguo Fu, Liangpu Xu, Na Lin, Hailong Huang   +4 more
doaj   +1 more source