Results 91 to 100 of about 219,632 (346)

Genetic Diagnosis and Discovery Enabled by Large Language Models

Advanced Science, EarlyView.
We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu, Khaled Saab, Weida Liu, Zhouqing Fang, Zhuanfen Cheng, Svetolik Spasic, Maja Djurisic, Hiroaki Mohri, Wenlong Ren, Anil Palepu, Juraj Gottweis, Alan Karthikesalingam, Kavita Kulkarni, Annalisa Pawlosky, Devon Bonner, Elijah Kravets, Shruti Marwaha, Hector R. Mendez, Matthew T. Wheeler, Jonathan A. Bernstein, Undiagnosed Diseases Network, Cheng‐Yu Tsai, Chen‐Chi Wu, Konstantina M. Stankovic, Vivek Natarajan, Gary Peltz   +25 more
wiley   +1 more source

Effects of DNA mass on multiple displacement whole genome amplification and genotyping performance

BMC Biotechnology, 2005
Background Whole genome amplification (WGA) promises to eliminate practical molecular genetic analysis limitations associated with genomic DNA (gDNA) quantity.
Haque Kashif A, Qi Ying, Bergen Andrew W, Welch Robert A, Chanock Stephen J   +4 more
doaj   +1 more source

Maast: genotyping thousands of microbial strains efficiently

Genome Biology, 2023
Existing single nucleotide polymorphism (SNP) genotyping algorithms do not scale for species with thousands of sequenced strains, nor do they account for conspecific redundancy.
Zhou Jason Shi, Stephen Nayfach, Katherine S. Pollard   +2 more
doaj   +1 more source

Improved Imputation of Common and Uncommon Single Nucleotide Polymorphisms (SNPs) with a New Reference Set [PDF]

, 2011
Statistical imputation of genotype data is an important technique for analysis of genome-wide association studies (GWAS). We have built a reference dataset to improve imputation accuracy for studies of individuals of primarily European descent using ...
Amy Hutchinson, Ann W. Hsing, Brian E. Henderson, Charles C. Chung, Christopher M. Haiman, Daniel Stram, Demetrius Albanes, Jarmo Virtamo, Jennifer L. Stone, Joshua Sampson, Kevin Jacobs, Lauren R. Teras, Margaret Tucker, Mark P. Purdue, Meredith Yeager, Michael A. Eberle, Nilanjan Chatterjee, Phil Taylor, Sonja I. Berndt, Stephen Chanock, Susan M. Gabstur, W. Ryan Diver, Xiang Deng, Zhaoming Wang   +23 more
core   +2 more sources

Designing Optimally Multiplexed SNP Genotyping Assays

Journal of Computer and System Sciences, 2003
zbMATH Open Web Interface contents unavailable due to conflicting licenses.
Aumann, Yonatan, Manisterski, Efrat, Yakhini, Zohar   +2 more
openaire   +2 more sources

cuteHap: Haplotype‐Aware Structural Variant Detection in Phased Long‐Read Sequencing Data

Advanced Science, EarlyView.
cuteHap is a haplotype‐aware structural variant detection method designed for phased long‐read sequencing. By employing self‐adaptive clustering and credibility‐prioritized beam search algorithms, cuteHap generates accurate haplotype‐resolved calls and outperforms state‐of‐the‐art tools.
Shuqi Cao, Yadong Liu, Miao Cui, Runtian Gao, Weimin Guo, Guohua Wang, Yadong Wang, Tao Jiang   +7 more
wiley   +1 more source

A new common functional coding variant at the DDC gene change renal enzyme activity and modify renal dopamine function. [PDF]

, 2019
The intra-renal dopamine (DA) system is highly expressed in the proximal tubule and contributes to Na+ and blood pressure homeostasis, as well as to the development of nephropathy.
Baker, Dewleen G, Biswas, Nilima, González-Sarmiento, Rogelio, Hightower, C Makena, Ichinose, Hiroshi, Kurosaki, Hiroki, León-Jiménez, David, Lipkowitz, Michael S, Mahata, Manjula, Miramontes-Gonzalez, Jose Pablo, Nievergelt, Caroline M, O'Connor, Daniel T, Schork, Andrew J, Vaingankar, Sucheta, Zhang, Kuixing, Ziegler, Michael G   +15 more
core   +2 more sources

Genotype of IFITM3 Promoter SNP, Associated with Influenza Severity, Found to Affect Chromatin Interactions and Accessibility [PDF]

, 2020
E. Kaitlynn Allen, Jeremy Chase Crawford, Damien J. Downes, Jim R. Hughes, Paul G. Thomas   +4 more
openalex   +1 more source

Pan‐3D Genome Analysis Reveals the Roles of Structural Variation in Chicken Chromatin Architectures, Domestication and Production Traits

Advanced Science, EarlyView.
This study firstly presents a comprehensive and high‐resolution pan‐3D genome resource in chicken. Our findings reveal the role of structural variations in 3D genome architectures, and how they influence the domestication process and production traits at the 3D genome level.
Zhen Zhou, Danfeng Cai, Changbin Zhao, Siyu Zhang, Jiahao Li, Zhaofeng Zhang, Shaofen Kong, Xin Yang, Xiaoli Zhou, Farhad Bordbar, Fayi Chen, Yaohuan Xu, Zhe Zhang, Lihong Gu, Zhenhui Li, Xiquan Zhang, Wen Luo, Jingting Shu, Bolin Cai, Qinghua Nie   +19 more
wiley   +1 more source

Multiplex-Ready PCR: A new method for multiplexed SSR and SNP genotyping

BMC Genomics, 2008
Background Microsatellite (SSR) and single nucleotide polymorphism (SNP) markers are widely used in plant breeding and genomic research. Thus, methods to improve the speed and efficiency of SSR and SNP genotyping are highly desirable.
Nguyen Thao M, Hayden Matthew J, Waterman Amanda, Chalmers Kenneth J   +3 more
doaj   +1 more source