Germline genetics within the SJLIFE cohort has been conducted using DNA extracted from blood samples for survivors and cancer-free controls, which include the following:

  • SNP genotyping for 2,622 survivors using Affymetrix array 6.0.
  • Whole-genome sequencing (WGS) with 30X coverage was performed at the HudsonAlpha Institute for 4422 survivors and 447 non-cancer controls (3026 survivors and 341 controls using Illumina HiSeq X Ten sequencers; 1,396 survivors and 106 controls using Illumina NovaSeq).
  • Whole-exome sequencing (WES) with 100X coverage was performed at SJCRH for the 4422 survivors and 447 non-cancer controls using Illumina HiSeq 4000 platform and the Illumina NovaSeq.
  • Primary sequencing data analysis including quality control, mapping and variant calling is being carried through an automated pipeline by the bioinformatics team in the Department of Computation Biology at St. Jude Children's Research Hospital, resulting in a WGS/WES clean data set accessible via the St. Jude Cloud.

Genomics characterization, genome-wide epigenetic profiling was done, as a pilot study, for a subset of 300 survivors using Illumina MethylationEPIC BeadChip.

Demographic and Diagnostic Characteristics of SJLIFE Whole Genome Sequencing Participants

Characteristics N (%)
Sex Female 1422 (47.3)
Male 1584 (52.7)
Race White 2510 (83.5)
Black 450 (15.0)
Other 46 (1.5)
Hispanic Ethnicity Yes 58 (1.9)
No 2948 (98.1)
Primary Diagnosis Acute lymphoblastic leukemia 966 (32.1)
Acute myeloid leukemia 80 (2.7)
Other leukemia 4 (0.1)
Other hematologic malignancy 20 (0.7)
CNS tumor 334 (11.1)
Ewing sarcoma family of tumors 90 (3.0)
Osteosarcoma 115 (3.8)
Germ cell tumor 75 (2.5)
Hepatoblastoma 19 (0.6)
Hodgkin lymphoma 369 (12.3)
Non-Hodgkin lymphoma 217 (7.2)
Melanoma 18 (0.6)
Neuroblastoma 140 (4.7)
Retinoblastoma 99 (3.3)
Rhabdmyosarcoma 103 (3.4)
Non-Rhabdmyosarcoma 85 (2.8)
Wilms tumor  210 (7.0)
Carcinomas 43 (1.4)
Other malignancy 16 (0.5)
Other neoplasm  3 (0.1)
Age at Diagnosis (Years) Mean +/- sd 7.7 +/- 5.6
Median 7.0
Range 0 – 23
<1 195 (6.5)
1 - 4 971 (32.3)
5 - 9 686 (22.8)
10 - 14 682 (22.7)
15 - 19 451 (15.0)
20 - 23 21 (0.7)
Diagnosis to Baseline Visit or Expansion Consent (Years) Mean +/- sd 23.1 +/- 8.5
Median 22.1
Range 5 – 49
5 - 9 49 (1.6)
10 - 19 1182 (39.3)
20 - 29 1094 (36.4)
30 - 39 576 (19.2)
40 - 49 105 (3.5)
Age at Baseline Visit or Expansion Consent (Years) Mean +/- sd 30.8 +/- 8.9
Median 30.0
Range 6 – 64
<18 82 (2.7)
18 - 24 765 (25.5)
25 - 29 612 (20.4)
30 - 34 600 (20.0)
35 - 39 424 (14.1)
40 - 44 282 (9.4)
45 - 49 155 (5.2)
50 - 64 86 (2.7)

Explore More Study Data

  • Core Battery Assessment

    View the assessments given during on campus visits for St. Jude LIFE and After Completion of Therapy participants.

  • Biological Sample Collection

    View the type and volume of specific blood and urine specimens collected from St. Jude LIFE study participants.

  • Questionnaires

    Access questionnaires used to evaulate St. Jude LIFE study participants' health, social and demographic factors, psychosocial functioning, and psychosexual health.