Zobrazeno 1 - 10
of 210
pro vyhledávání: '"GATK"'
Autor:
Taifu Wang, Youjin Zhang, Haoling Wang, Qiwen Zheng, Jiaobo Yang, Tiefeng Zhang, Geng Sun, Weicong Liu, Longhui Yin, Xinqiu He, Rui You, Chu Wang, Zhencheng Liu, Zhijian Liu, Jin’an Wang, Xiangqian Jin, Zengquan He
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-10 (2024)
Abstract Background Whole genome sequencing (WGS) is becoming increasingly prevalent for molecular diagnosis, staging and prognosis because of its declining costs and the ability to detect nearly all genes associated with a patient's disease. The cur
Externí odkaz:
https://doaj.org/article/474926609b464f6b8cd3e93683c76016
Autor:
Yong Zhou, Nagarajan Kathiresan, Zhichao Yu, Luis F. Rivera, Yujian Yang, Manjula Thimma, Keerthana Manickam, Dmytro Chebotarov, Ramil Mauleon, Kapeel Chougule, Sharon Wei, Tingting Gao, Carl D. Green, Andrea Zuccolo, Weibo Xie, Doreen Ware, Jianwei Zhang, Kenneth L. McNally, Rod A. Wing
Publikováno v:
BMC Biology, Vol 22, Iss 1, Pp 1-15 (2024)
Abstract Background Single-nucleotide polymorphisms (SNPs) are the most widely used form of molecular genetic variation studies. As reference genomes and resequencing data sets expand exponentially, tools must be in place to call SNPs at a similar pa
Externí odkaz:
https://doaj.org/article/fe1b91bbacd94ec78f5e766857ce4062
Autor:
Michelle Elizabeth Roy, M. Manoj, P.M. Rojan, Tina Sadan, T.V. Aravindakshan, A.P. Usha, M.P. Unnikrishnan
Publikováno v:
Journal of Veterinary and Animal Sciences, Vol 54, Iss 2, Pp 524-531 (2023)
Ankamali pig is a domesticated native variety of Kerala which is well known for its disease resistance, lean meat and adaptability to hot tropical environments. Recent breakthrough in genome sequencing technologies have created unparalleled prospec
Externí odkaz:
https://doaj.org/article/76df02eb9e2e4db084d7f7c5758b5640
Akademický článek
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Akademický článek
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Autor:
Morgan R. Stegemiller, Reid R. Redden, David R. Notter, Todd Taylor, J. Bret Taylor, Noelle E. Cockett, Michael P. Heaton, Theodore S. Kalbfleisch, Brenda M. Murdoch
Publikováno v:
Frontiers in Genetics, Vol 13 (2023)
As whole genome sequence (WGS) data sets have become abundant and widely available, so has the need for variant detection and scoring. The aim of this study was to compare the accuracy of commonly used variant calling programs, Freebayes and GATK Hap
Externí odkaz:
https://doaj.org/article/4550ae43d2f64421b45c36a85fee58dc
Publikováno v:
BMC Bioinformatics, Vol 22, Iss 1, Pp 1-24 (2021)
Abstract Background Population genetic studies of humans make increasing use of high-throughput sequencing in order to capture diversity in an unbiased way. There is an abundance of sequencing technologies, bioinformatic tools and the available genom
Externí odkaz:
https://doaj.org/article/4d612689b2e6408c86f15421b8027ec4
Autor:
Jochen Bathke, Gesine Lühken
Publikováno v:
BMC Bioinformatics, Vol 22, Iss 1, Pp 1-18 (2021)
Abstract Background The advent of next generation sequencing has opened new avenues for basic and applied research. One application is the discovery of sequence variants causative of a phenotypic trait or a disease pathology. The computational task o
Externí odkaz:
https://doaj.org/article/ead7d773ff6e4c6f948250a178eb37f7
Autor:
Jared M. Simons, Tim C. Herbert, Coleby Kauffman, Marc Y. Batete, Andrew T. Simpson, Yuka Katsuki, Dong Le, Danielle Amundson, Elizabeth M. Buescher, Clifford Weil, Mitch Tuinstra, Charles Addo‐Quaye
Publikováno v:
Plant Direct, Vol 6, Iss 5, Pp n/a-n/a (2022)
Abstract The precise detection of causal DNA mutations (deoxyribonucleic acid) is very crucial for forward genetic studies. Several sources of errors contribute to false‐positive detections by current variant‐calling algorithms, which impact asso
Externí odkaz:
https://doaj.org/article/075dde7768924a779a99f3909a40620b
Publikováno v:
BMC Genomics, Vol 21, Iss S10, Pp 1-14 (2020)
Abstract Background Immense improvements in sequencing technologies enable producing large amounts of high throughput and cost effective next-generation sequencing (NGS) data. This data needs to be processed efficiently for further downstream analyse
Externí odkaz:
https://doaj.org/article/f2387718713147ad90d2826f27285ba9