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IGESS: a statistical approach to integrating individual-level genotype data and summary statistics in genome-wide association studies
Author(s) -
Shuyang Dai,
Jingsi Ming,
Mingxuan Cai,
Jin Liu,
Can Yang,
Xiang Wan,
Zongben Xu
Publication year - 2017
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btx314
Subject(s) - statistical power , summary statistics , sample size determination , inference , statistical inference , computer science , genome wide association study , statistics , data mining , data science , genotype , biology , artificial intelligence , single nucleotide polymorphism , mathematics , genetics , gene
Results from genome-wide association studies (GWAS) suggest that a complex phenotype is often affected by many variants with small effects, known as 'polygenicity'. Tens of thousands of samples are often required to ensure statistical power of identifying these variants with small effects. However, it is often the case that a research group can only get approval for the access to individual-level genotype data with a limited sample size (e.g. a few hundreds or thousands). Meanwhile, summary statistics generated using single-variant-based analysis are becoming publicly available. The sample sizes associated with the summary statistics datasets are usually quite large. How to make the most efficient use of existing abundant data resources largely remains an open question.

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