Výsledky vyhledávání - "SINGLE NUCLEOTIDE POLYMORPHISMS"

Akademický článek

A consensus-based classification workflow to determine genetically inferred ancestry from comprehensive genomic profiling of patients with solid tumors.

Autor: Wallen, Zachary D¹ (AUTHOR) zachary.wallen@labcorp.com, Nesline, Mary K¹ (AUTHOR), Pabla, Sarabjot¹ (AUTHOR), Gao, Shuang¹ (AUTHOR), Vanroey, Erik¹ (AUTHOR), Hastings, Stephanie B¹ (AUTHOR), Ko, Heidi¹ (AUTHOR), Strickland, Kyle C^1,2 (AUTHOR), Previs, Rebecca A^1,3 (AUTHOR), Zhang, Shengle¹ (AUTHOR), Conroy, Jeffrey M¹ (AUTHOR), Jensen, Taylor J¹ (AUTHOR), George, Elizabeth⁴ (AUTHOR), Eisenberg, Marcia⁴ (AUTHOR), Caveney, Brian⁴ (AUTHOR), Sathyan, Pratheesh⁵ (AUTHOR), Ramkissoon, Shakti^1,6 (AUTHOR), Severson, Eric A¹ (AUTHOR)

Publikováno v: Briefings in Bioinformatics. Nov2024, Vol. 25 Issue 6, p1-16. 16p.

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Cross-population enhancement of PrediXcan predictions with a gnomAD-based east Asian reference framework.

Autor: Chan, Han-Ching¹ (AUTHOR), Chattopadhyay, Amrita¹ (AUTHOR), Lu, Tzu-Pin^1,2 (AUTHOR) tplu@ntu.edu.tw

Publikováno v: Briefings in Bioinformatics. Nov2024, Vol. 25 Issue 6, p1-9. 9p.

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miniSNV: accurate and fast single nucleotide variant calling from nanopore sequencing data.

Autor: Cui, Miao¹ (AUTHOR), Liu, Yadong^1,2 (AUTHOR), Yu, Xian¹ (AUTHOR), Guo, Hongzhe^1,2 (AUTHOR), Jiang, Tao^1,2 (AUTHOR), Wang, Yadong^1,2 (AUTHOR) bo.liu@hit.edu.cn, Liu, Bo^1,2 (AUTHOR) bo.liu@hit.edu.cn

Publikováno v: Briefings in Bioinformatics. Nov2024, Vol. 25 Issue 6, p1-11. 11p.

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dHICA: a deep transformer-based model enables accurate histone imputation from chromatin accessibility.

Autor: Wen, Wen¹ (AUTHOR), Zhong, Jiaxin¹ (AUTHOR), Zhang, Zhaoxi¹ (AUTHOR), Jia, Lijuan¹ (AUTHOR), Chu, Tinyi² (AUTHOR), Wang, Nating³ (AUTHOR), Danko, Charles G^4,5 (AUTHOR), Wang, Zhong¹ (AUTHOR) zhongwang@dlut.edu.cn

Publikováno v: Briefings in Bioinformatics. Nov2024, Vol. 25 Issue 6, p1-11. 11p.

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Genetic coping mechanisms observed in Leishmania tropica, from the Middle East region, enhance the survival of the parasite after drug exposure.

Autor: Glans, Hedvig^1,2 (AUTHOR) hedvig.glans@ki.se, Matos, Gabriel M.³ (AUTHOR), Bradley, Maria² (AUTHOR), Downing, Tim^4,5 (AUTHOR), Andersson, Björn³ (AUTHOR)

Publikováno v: PLoS ONE. 12/3/2024, Vol. 19 Issue 12, p1-19. 19p.

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Whole-exome sequencing and Drosophila modelling reveal mutated genes and pathways contributing to human ovarian failure.

Autor: Henarejos-Castillo, Ismael^1,2 (AUTHOR), Sanz, Francisco José^1,3 (AUTHOR), Solana-Manrique, Cristina^3,4 (AUTHOR), Sebastian-Leon, Patricia¹ (AUTHOR), Medina, Ignacio⁵ (AUTHOR), Remohi, José^1,2 (AUTHOR), Paricio, Nuria³ (AUTHOR), Diaz-Gimeno, Patricia^1,6 (AUTHOR) patricia.diaz@ivirma.com

Publikováno v: Reproductive Biology & Endocrinology. 12/4/2024, Vol. 22 Issue 1, p1-13. 13p.

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Genome-wide association study comparison analysis based on Hanwoo full-sib family.

Autor: Ji-Yeong Kim¹, Eun-Ho Kim¹, Ho-Chan Kang¹, Cheol-Hyun Myung¹, Il-Keun Kong^2,3, Hyun-Tae Lim^1,3 s_htim@gnu.ac.kr

Publikováno v: Animal Bioscience. Dec2024, Vol. 37 Issue 12, p2054-2065. 12p.

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Genetic variation analysis of Guanling cattle based on whole-genome resequencing.

Autor: Longxin Xu¹, Xin Wang¹, Junda Wu¹, Hua Wang¹, Wenzhang Zhou¹, Jing Liu¹, Mengmeng Ni^2,3, Kaikai Zhang¹, Bo Yu¹ yuboky@163.com, Ruiyi Lin⁴ linruiyi@fafu.edu.cn

Publikováno v: Animal Bioscience. Dec2024, Vol. 37 Issue 12, p2044-2053. 10p.

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Investigation of single nucleotide polymorphisms in differentially expressed genes and proteins reveals the genetic basis of skeletal muscle growth differences between Tibetan and Large White pigs.

Autor: Heli Xiong¹ helihewei@163.com, Yan Zhang¹, Zhiyong Zhao¹

Publikováno v: Animal Bioscience. Dec2024, Vol. 37 Issue 12, p2021-2032. 12p.

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High‐quality haplotype‐resolved chromosome assembly provides evolutionary insights and targeted steviol glycosides (SGs) biosynthesis in Stevia rebaudiana Bertoni.

Autor: Masand, Mamta^1,2 (AUTHOR), Sharma, Shikha^1,2 (AUTHOR), Kumari, Sangeeta¹ (AUTHOR), Pal, Poonam^1,2 (AUTHOR), Majeed, Aasim¹ (AUTHOR), Singh, Gopal^1,2 (AUTHOR), Sharma, Ram Kumar^1,2 (AUTHOR) ramsharma@ihbt.res.in

Publikováno v: Plant Biotechnology Journal. Dec2024, Vol. 22 Issue 12, p3262-3277. 16p.

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