Table 1:

Various genetic methods used to identify and utilize genetic associations in the study of PLT and MPV

Method	Abbreviation	Description	Type of variation	Studies
Genome-wide association study	GWAS	Genotyping of 100,000s to millions of common single nucleotide polymorphisms (SNPs) across the genome to identify regions associated with trait of interest	Common Non-coding Regulatory	Meisinger et al. 2009 PMID: 19110211 Soranzo et al. 2009 PMID: 19221038 Soranzo et al. 2009 PMID: 19820697 Gieger et al. 2011 PMID: 22139419 Schick et al. 2016 PMID: 26805783 Qayyum et al. 2012 PMID: 22423221 Li et al. 2013 PMID: 23263863 Oh et al. 2014 PMID: 25705162 Kim et al. 2015 PMID: 26064965 Kamatani et al. 2010 PMID: 20139978 Shameer et al. 2014 PMID: 24026423 Astle et al. 2016 PMID: 27863252
Whole exome sequencing	WES	Direct sequencing of coding regions of the genome to identify non-synonymous and synonymous variants associated with trait of interest	Rare Coding	Auer et al. 2012 PMID: 23103231 Polfus et al. 2016 PMID: 27486782
Exomechip		Genotyping of ~250,000 previously observed rare to low frequency coding variants and a small fraction of previously associated SNPs from GWAS to examine contribution of exonic variants to trait of interest and to replicate previous findings, respectively	Mostly Rare Mostly Coding	Auer et al. 2014 PMID: 24777453 Eicher et al. 2016 PMID: 27346686
Whole genome sequencing	WGS	Direct sequencing of the entire genome to identify individual SNPs, genomic regions, or other types of variation associated with trait of interest. Sometimes such data are used as a reference panel to impute or infer genotypes in larger samples.	All	Iotchkova et al. 2016 PMID: 27668658
Phenome-wide association study	PheWAS	Examining the association of a single genetic variant across hundreds of available traits to determine possible effects of a variant across phenotypes	Usually common	Shameer et al. 2014 PMID: 24026423
Mendelian Randomization	MR	Using the random assortment of genetic alleles and SNPs as strong instrument variables for prospective intermediate phenotypes to determine causal relationships between different traits	N/A	Astle et al. 2016 PMID: 27863252