Results 21 to 30 of about 3,753,733 (329)

MungeSumstats: a Bioconductor package for the standardization and quality control of many GWAS summary statistics

bioRxiv, 2021
Summary Genome-wide association studies (GWAS) summary statistics have popularised and accelerated genetic research. However, a lack of standardisation of the file formats used has proven problematic when running secondary analysis tools or performing ...
Alan E. Murphy, Nathan G. Skene
semanticscholar   +1 more source

A comparison of likelihood-free methods with and without summary statistics [PDF]

Statistics and computing, 2021
Likelihood-free methods are useful for parameter estimation of complex models with intractable likelihood functions for which it is easy to simulate data.
C. Drovandi, David T. Frazier
semanticscholar   +1 more source

Quantifying portable genetic effects and improving cross-ancestry genetic prediction with GWAS summary statistics

bioRxiv, 2022
Polygenic risk scores are used to improve risk prediction for common diseases but typically have reduced accuracy for individuals of non-European ancestry.
J. Miao, Hanmin Guo, Gefei Song, Zijie Zhao, Lin Hou, Q. Lu   +5 more
semanticscholar   +1 more source

SumStatsRehab: an efficient algorithm for GWAS summary statistics assessment and restoration

BMC Bioinformatics, 2022
Background Generating polygenic risk scores for diseases and complex traits requires high quality GWAS summary statistic files. Often, these files can be difficult to acquire either as a result of unshared or incomplete data.
Mykyta Matushyn, Madhuchanda Bose, Abdallah Amr Mahmoud, Lewis Cuthbertson, Carlos Tello, Karatuğ Ozan Bircan, Andrew Terpolovsky, Varuna Bamunusinghe, Umar Khan, Biljana Novković, Manfred G. Grabherr, Puya G. Yazdi   +11 more
doaj   +1 more source

An Omnibus Test for Detecting Multiple Phenotype Associations Based on GWAS Summary Level Data

Frontiers in Genetics, 2021
Abundant Genome-wide association study (GWAS) findings have reflected the sharing of genetic variants among multiple phenotypes. Exploring the association between genetic variants and multiple traits can provide novel insights into the biological ...
Wei Liu, Yunshan Guo, Zhonghua Liu
doaj   +1 more source

Integrative Mendelian randomization for detecting exposure-by-group interactions using group-specific and combined summary statistics. [PDF]

PLoS Genet
Xu K, Maydanchik N, Kang B, Chen J, Chen Q, Xu G, Tasaki S, Bennett DA, Chen LS.   +8 more
europepmc   +3 more sources

Human microbiome privacy risks associated with summary statistics.

PLoS ONE, 2021
Recognizing that microbial community composition within the human microbiome is associated with the physiological state of the host has sparked a large number of human microbiome association studies (HMAS).
Jae-Chang Cho
doaj   +1 more source

A tool for translating polygenic scores onto the absolute scale using summary statistics

European Journal of Human Genetics, 2022
There is growing interest in the clinical application of polygenic scores as their predictive utility increases for a range of health-related phenotypes.
Oliver Pain, A. Gillett, J. Austin, L. Folkersen, C. Lewis   +4 more
semanticscholar   +1 more source

PUMAS: fine-tuning polygenic risk scores with GWAS summary statistics

Genome Biology, 2021
Polygenic risk scores (PRSs) have wide applications in human genetics research, but often include tuning parameters which are difficult to optimize in practice due to limited access to individual-level data.
Zijie Zhao, Yanyao Yi, Jie Song, Yuchang Wu, Xiaoyuan Zhong, Yupei Lin, T. Hohman, Jason M. Fletcher, Q. Lu   +8 more
semanticscholar   +1 more source

Summary statistics

Xiaofei Shi (1830124), Yuanhao Shen (11604429), Yuanfang Wang (1482457), Jinlong Han (6477041)   +3 more
openaire   +2 more sources