Personal Genome Project UK — UKAC4950

This page documents the dataset used in the Genetase demo.

Dataset source

Project: Personal Genome Project UK
Data portal: https://www.personalgenomes.org.uk/data/

PGP-UK ID: ukAC4950
WGS: ERX2179502
VCF: ERZ1065952
Identifier: ERS1176583

PGP report: https://my.personalgenomes.org.uk/profile/ukAC4950

Phenotype Data (copied from PGP)

General Questionnaire

1. PGP-UK ID
ukAC4950
2. Sex (from birth)
Male
3. Gender
Male
4. Date of Birth
30/08/1960
5. Have you ever smoked?
Yes
6. Do you currently smoke?
No
7. Age stopped smoking
20
8. Age started smoking
15
9. Cigarettes per day
5
10. Blood type
Unknown
11. Rh factor
Unknown
12. Handedness
Right
13. Weight
92 kg
14. Height
185 cm
15. Natural hair colour
Brown
16. Hair details
Still full hair, almost no grey hair, texture changed dramatically from straight to very curly at puberty
17. Right eye colour
Blue
18. Right eye details
Bright blue
19. Left eye colour
Blue
20. Left eye details
Bright blue
21. Additional information
Polycystic kidney disease, natural very muscular build with high strength

VCF generation

PGP-UK provided a gVCF with identifier ERS1176583 (ERS1176587_noHLA.vcf.gz).

To obtain the VCF used in the Genetase analysis the following filters were applied:

MIN_DP = 20 MIN_GQ = 50 AB_HET_MIN = 0.3 AB_HET_MAX = 0.7

Filtered VCF used in the Genetase demo:

Download VCF
File: ERS1176583_UKAC4950_filtered.vcf.gz
Size: 162 MB