Results 111 to 120 of about 213,884 (275)

Additional file 6: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

, 2016
Clinical pictures and brain MRI of patients #16 (mutated in ERCC5(XPG)). Sagittal T1 and axial T2-Flair (PPTX 970 kb)
Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Jean-Louis Mandel, Laugel, Vincent   +28 more
openaire   +1 more source

De Novo Reconstruction of 3D Human Facial Images from DNA Sequence

Advanced Science, EarlyView.
This study introduces Difface, a novel deep‐learning model for reconstructing 3D facial images only from DNA data. By integrating transformer networks, spiral convolutions, and a diffusion model, Difface directly aligns high‐dimensional SNP data with 3D facial structures.
Mingqi Jiao, Jiarui Li, Bingxu Zhong, Siyuan Du, Shuning Li, Manfei Zhang, Qibin Zhang, Zhongming Liang, Fan Liu, Chunman Zuo, Sijia Wang, Luonan Chen   +11 more
wiley   +1 more source

Using high-throughput barcode sequencing to efficiently map connectomes

bioRxiv, 2017
The function of a neural circuit is determined by the details of its synaptic connections. At present, the only available method for determining a neural wiring diagram with single synapse precision—a “connectome”—is based on imaging methods that are ...
Ian D. Peikon, Justus M. Kebschull, Vasily V. Vagin, Diana I. Ravens, Yu-Chi Sun, Eric Brouzes, Ivan R. Corrêa, D. Bressan, A. Zador   +8 more
semanticscholar   +1 more source

Natural Allelic Variations in IbCHYR1–IbZnFR Complex Regulate Fusarium Root Rot Resistance in Sweet Potato

Advanced Science, EarlyView.
FfRlpA2, a conserved Fusarium effector, functions as a protease inhibitor by hijacking the E3 ubiquitin ligase IbCHYR1 to degrade the resistance factor IbZnFR, thereby promoting Fusarium pathogenicity. Conversely, the high dosage Pro::IbZnFRHap2 allele was associated with resistance to root rot disease.
Huan Zhang, Zhuoru Dai, Xiaochen Zhang, Meiqi Shang, Xiaoru Gao, Ruiqi Ma, Limeng Zhao, Xiaoli Zhang, Qingchang Liu, Hong Zhai, Shaopei Gao, Ning Zhao, Qinghe Cao, Qiang Li, Shaozhen He   +14 more
wiley   +1 more source

Additional file 5: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

, 2016
Clinical pictures of patients #8 (A) and #9 (B) (mutated in ERCC8(CSA)). (PPTX 403 kb)
Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Jean-Louis Mandel, Laugel, Vincent   +28 more
openaire   +1 more source

Genomic Methods Take the Plunge: Recent Advances in High-Throughput Sequencing of Marine Mammals.

Journal of Heredity, 2016
The dramatic increase in the application of genomic techniques to non-model organisms (NMOs) over the past decade has yielded numerous valuable contributions to evolutionary biology and ecology, many of which would not have been possible with traditional
Kristina M. Cammen, Kimberly R. Andrews, E. Carroll, A. Foote, E. Humble, J. Khudyakov, M. Louis, M. McGowen, M. T. Olsen, Amy M Van Cise   +9 more
semanticscholar   +1 more source

Forage Crop Research in the Modern Age

Advanced Science, EarlyView.
Forage crops are increasingly vital to sustainable agriculture, yet urgent demands for transformative innovations create unprecedented opportunities and challenges. This review synthesizes the latest advances in forage research, spotlighting cutting‐edge breeding technologies and their transformative potential.
Qikun Liu, Gai Huang, Zhiqiang Zhang, Zhelong Lin, Xian Deng, Xueming Dong, Zhipeng Liu, Zan Wang, Yingjun Zhang, Hai‐chun Jing, Kang Chong, Xiaofeng Cao   +11 more
wiley   +1 more source

"Sequencing-grade" screening for BRCA1 variants by oligo-arrays

Journal of Translational Medicine, 2008
The need for fast, efficient, and less costly means to screen genetic variants associated with disease predisposition led us to develop an oligo-nucleotide array-based process for gene-specific single nucleotide polymorphism (SNP) genotyping.
Fasano Ross, Sabatino Marianna, Tommasi Stefania, Zhao Yingdong, Menolascina Filippo, Monaco Alessandro, Paradiso Angelo, Marincola Francesco M, Wang Ena   +8 more
doaj   +1 more source

Additional file 7: of Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing

, 2016
Clinical picture and molecular results of patients #17 (mutated in ERCC3(XPB)). A: clinical picture of patient #17. B: Patient #17 reads alignment (thanks to Alamut Visual) showing that both mutations c.296 T > C and c.325C > T were never observed on the same read. Forward reads are in green and reverse reads are in blue. (PPTX 477 kb)
Calmels, Nadège, Greff, Géraldine, Obringer, Cathy, Kempf, Nadine, Gasnier, Claire, Tarabeux, Julien, Miguet, Marguerite, Baujat, Geneviève, Bessis, Didier, Bretones, Patricia, Cavau, Anne, Digeon, Béatrice, Doco-Fenzy, Martine, Doray, Bérénice, Feillet, François, Gardeazabal, Jesus, Gener, Blanca, Julia, Sophie, Llano-Rivas, Isabel, Mazur, Artur, Michot, Caroline, Renaldo-Robin, Florence, Rossi, Massimiliano, Sabouraud, Pascal, Keren, Boris, Depienne, Christel, Muller, Jean, Jean-Louis Mandel, Laugel, Vincent   +28 more
openaire   +1 more source

Enhancing Specificity, Precision, Accessibility, Flexibility, and Safety to Overcome Traditional CRISPR/Cas Editing Challenges and Shape Future Innovations

Advanced Science, EarlyView.
CRISPR/Cas9, while transformative, faces challenges in specificity, precision, delivery, accessibility, flexibility, and safety. This review addresses these limitations by highlighting strategies to reduce off‐target effects, exploring HDR‐based and alternative editing approaches, and evaluating advanced delivery mechanisms.
Muna Alariqi, Mohamed Ramadan, Lu Yu, Fengjiao Hui, Amjad Hussain, Xiaofeng Zhou, Yu Yu, Xianlong Zhang, Shuangxia Jin   +8 more
wiley   +1 more source