Zobrazeno 1 - 10
of 304
pro vyhledávání: '"causal variants"'
Autor:
Claire P. Prowse-Wilkins, Thomas J. Lopdell, Ruidong Xiang, Christy J. Vander Jagt, Mathew D. Littlejohn, Amanda J. Chamberlain, Michael E. Goddard
Publikováno v:
BMC Genomics, Vol 23, Iss 1, Pp 1-19 (2022)
Abstract Background Causal variants for complex traits, such as eQTL are often found in non-coding regions of the genome, where they are hypothesised to influence phenotypes by regulating gene expression. Many regulatory regions are marked by histone
Externí odkaz:
https://doaj.org/article/bc8d9d89f6eb439bb8e78fb640312239
Autor:
Althagafi, Azza Th.
Whole-exome and genome sequencing are widely used to diagnose individual patients. However, despite its success, this approach leaves many patients undiagnosed. This could be due to the need to discover more disease genes and variants or because dise
Externí odkaz:
http://hdl.handle.net/10754/693761
Akademický článek
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Akademický článek
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Autor:
Hubert Pausch, Xena Marie Mapel
Publikováno v:
Animal, Vol 17, Iss , Pp 100742- (2023)
Cattle are a well-suited “model organism” to study the genetic underpinnings of variation in male reproductive performance. The adoption of artificial insemination and genomic prediction in many cattle breeds provide access to microarray-derived
Externí odkaz:
https://doaj.org/article/45331ff11f2d43a0875bf15a265036f8
Autor:
Ibrar Rafique, Asif Mir, Muhammad Arif Nadeem Saqib, Muhammad Naeem, Luc Marchand, Constantin Polychronakos
Publikováno v:
BMC Endocrine Disorders, Vol 21, Iss 1, Pp 1-6 (2021)
Abstract Background Maturity Onset Diabetes of the Young (MODY) is an autosomal dominant type of diabetes. Pathogenic variants in fourteen genes are reported as causes of MODY. Its symptoms overlap with type 1 and type 2 diabetes. Reviews for clinica
Externí odkaz:
https://doaj.org/article/89d9c2ea7205409caccbd8aa9c15f46c
Publikováno v:
Genome Biology, Vol 22, Iss 1, Pp 1-26 (2021)
Abstract In standard genome-wide association studies (GWAS), the standard association test is underpowered to detect associations between loci with multiple causal variants with small effect sizes. We propose a statistical method, Model-based Associa
Externí odkaz:
https://doaj.org/article/1e301c80dcd74ee2804a25fa2f567332
Autor:
Siyu Pan, Xinxuan Liu, Tianzi Liu, Zhongming Zhao, Yulin Dai, Yin-Ying Wang, Peilin Jia, Fan Liu
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Amyotrophic lateral sclerosis (ALS) is a fatal progressive multisystem disorder with limited therapeutic options. Although genome-wide association studies (GWASs) have revealed multiple ALS susceptibility loci, the exact identities of causal variants
Externí odkaz:
https://doaj.org/article/658a8230eee84ea684f8c408b0e1beea
Autor:
Claire P. Prowse-Wilkins, Jianghui Wang, Ruidong Xiang, Josie B. Garner, Michael E. Goddard, Amanda J. Chamberlain
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Externí odkaz:
https://doaj.org/article/fa6c5a0b9871408d8ea7f73b8ef09088
Autor:
Gerson A. Oliveira Júnior, Daniel J. A. Santos, Aline S. M. Cesar, Solomon A. Boison, Ricardo V. Ventura, Bruno C. Perez, José F. Garcia, José Bento S. Ferraz, Dorian J. Garrick
Publikováno v:
Journal of Animal Science and Biotechnology, Vol 10, Iss 1, Pp 1-13 (2019)
Abstract Background Impaired fertility in cattle limits the efficiency of livestock production systems. Unraveling the genetic architecture of fertility traits would facilitate their improvement by selection. In this study, we characterized SNP chip
Externí odkaz:
https://doaj.org/article/1114087f637f4f1094e64fbc8474fa90