Implementation of individualised polygenic risk score analysis: a test case of a family of four

BMC Medical Genomics

Table 1 Statistics for clinical grade measures of the quality of the variant file

Sample ID	Coverage	Genotype quality	Homozygous/heterozygous ratio	Transition/transversion ratio	Total number of variants	Total number of coding variants
PT00007A (Father)	25	95.9*	0.51*	2.81*	46,50,536	27,504
PT00008A (Mother)	24	95.7*	0.51*	2.79*	46,95,886	27,329
PT00009A (Daughter)	29	97.8*	0.48	2.79*	48,12,818	27,400
PT00002A (Son)	43.0*	94.3	0.51*	2.81*	49,56,742	27,286

Star-marked values (*) indicates the quality is of clinical standards and no-star values that it is below clinical standards (see Fabric Genomics Clinical Grade Scoring Rules [http://help.fabricgenomics.com/hc/en-us/articles/206433937-Appendix-4-Clinical-Grade-Scoring-Rules]). The total number of variants for all saliva samples and the total number of coding variants for each family member are also shown

ISSN: 1755-8794