Description:
PERSONAL GENOME PROJECT
APPARENTLY HEALTHY INDIVIDUAL
|
Repository
|
NIGMS Human Genetic Cell Repository
|
| Subcollection |
Apparently Healthy Collection
PIGI Consented Sample
Whole-Genome Sequence |
| Quantity |
25 µg |
| Quantitation Method |
Please see our FAQ |
|
Biopsy Source
|
Peripheral vein
|
|
Cell Type
|
B-Lymphocyte
|
|
Tissue Type
|
Blood
|
|
Transformant
|
Epstein-Barr Virus
|
|
Sample Source
|
DNA from LCL
|
|
Race
|
White
|
|
Relation to Proband
|
proband
|
|
Confirmation
|
Clinical summary/Case history
|
|
ISCN
|
46,XY
|
|
Species
|
Homo sapiens
|
|
Common Name
|
Human
|
|
Remarks
|
|
| IDENTIFICATION OF SPECIES OF ORIGIN |
Species of Origin confirmed by LINE assay |
| |
| Demographic Data |
| Relation to Proband |
proband |
| Age at Sampling |
58 YR |
| Sex |
Male |
| Racial Category |
White |
| |
| Data Elements |
| Clinical Element Type: Church PHGP |
| (Baseline) |
| Vital Signs |
| Blood Type |
B+ |
| Height |
5'10 |
| Weight |
194 |
| Blood Pressure - Systolic (mm Hg) |
125 |
| Blood Pressure - Diastolic (mm Hg) |
85 |
| Allergies |
| Substance |
NONE |
| Reaction to Substance |
No Data |
| Medications, Vitamins, Supplements |
| Medication |
SIMVASTATIN, PROSCAR, CARDURA, DIURETIC, BABY ASPIRIN, MULTIVITAMIN |
| Medical History |
| Summary Paragraph |
PTOSIS OF THE LEFT EYE WITH MULTIPLE SURGERIES; BROKEN CLAVICLE, INJURED HIP AND MILD CONCUSSION DUE TO BICYCLING CRASH; INJURED HIP HAD SURGERY TO REMOVE FIBROUS MATERIAL ENCLOSING A LARGE HEMATOMA |
| Medical Condition |
PTOSIS OF THE LEFT EYE, ARTHRITIS |
| Race, Ethnicity, Ancestry |
| Race |
WHITE |
| Country of Origin - Subject |
USA |
| Country of Origin - Paternal Grandfather |
POLAND (ASHKENAZI DESCENT) |
| Country of Origin - Paternal Grandmother |
POLAND (ASHKENAZI DESCENT) |
| Country of Origin - Maternal Grandfather |
POLAND (ASHKENAZI DESCENT) |
| Country of Origin - Maternal Grandmother |
POLAND (ASHKENAZI DESCENT) |
| Traits |
| Eye Color |
hazel |
| Dominant Hand |
left |
| Near-sighted |
Yes No |
| Far-sighted |
Yes No |
| Wear Prescription Glasses |
Yes No |
| Remarks |
Participant #8 (huAE6220) in the Personal Genome Project: http://www.personalgenomes.org
Whole genome sequence data is available on the PGP website. |
| Furtado LV, Souers RJ, Vasalos P, Halley JG, Aisner DL, Nagarajan R, Voelkerding KV, Merker JD, Konnick EQ, Four-Year Laboratory Performance of the First College of American Pathologists In Silico Next-Generation Sequencing Bioinformatics Proficiency Testing Surveys Archives of pathology & laboratory medicine: 2022 |
| PubMed ID: 35671151 |
| |
| Lee SB, Shin JY, Kwon NJ, Kim C, Seo JS., ClinPharmSeq: A targeted sequencing panel for clinical pharmacogenetics implementation. PLoS One17: 2022 |
| PubMed ID: 35901010 |
| |
| Smullen M, Olson MN, Reichert JM, Dawes P, Murray LF, Baer CE, Wang Q, Readhead B, Church GM, Lim ET, Chan Y, Reliable multiplex generation of pooled induced pluripotent stem cells Cell reports methods3:100570 2022 |
| PubMed ID: 37751688 |
| |
| Botton MR, Yang Y, Scott ER, Desnick RJ, Scott SA, Phased Haplotype Resolution of the Genes11:100570 2020 |
| PubMed ID: 33198140 |
| |
| Scott SA, Scott ER, Seki Y, Chen AJ, Wallsten R, Owusu Obeng A, Botton MR, Cody N, Shi H, Zhao G, Brake P, Nicoletti P, Yang Y, Delio M, Shi L, Kornreich R, Schadt EE, Edelmann L, Development and Analytical Validation of a 29 Gene Clinical Pharmacogenetic Genotyping Panel: Multi-Ethnic Allele and Copy Number Variant Detection Clinical and translational science14:204-213 2020 |
| PubMed ID: 32931151 |
| |
| Gaedigk A, Turner A, Everts RE, Scott SA, Aggarwal P, Broeckel U, McMillin GA, Melis R, Boone EC, Pratt VM, Kalman LV, Characterization of Reference Materials for Genetic Testing of CYP2D6 Alleles A GeT-RM Collaborative Project The Journal of molecular diagnostics : JMD14:204-213 2019 |
| PubMed ID: 31401124 |
| |
| Lee SB, Wheeler MM, Thummel KE, Nickerson DA, Calling star alleles with Stargazer in 28 pharmacogenes with whole genome sequences Clinical pharmacology and therapeutics14:204-213 2019 |
| PubMed ID: 31206625 |
| |
| Suzuki O, Dong OM, Howard RM, Wiltshire T, Characterizing the pharmacogenome using molecular inversion probes for targeted next-generation sequencing Pharmacogenomics20:1005-1020 2019 |
| PubMed ID: 31559919 |
| |
| Twesigomwe D, Wright GEB, Drögemöller BI, da Rocha J, Lombard Z, Hazelhurst S, A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on NPJ genomic medicine5:30 2019 |
| PubMed ID: 32789024 |
| |
| Swart M, Stansberry WM, Pratt VM, Medeiros EB, Kiel PJ, Shen F, Schneider BP, Skaar TC, Analytical Validation of Variants to Aid in Genotype-Guided Therapy for Oncology The Journal of molecular diagnostics : JMD21:491-502 2018 |
| PubMed ID: 30794985 |
| |
| Mao Q, Ciotlos S, Zhang RY, Ball MP, Chin R, Carnevali P, Barua N, Nguyen S, Agarwal MR, Clegg T, Connelly A, Vandewege W, Zaranek AW, Estep PW, Church GM, Drmanac R, Peters BA., The whole genome sequences and experimentally phased haplotypes of over 100 personal genomes. Gigascience.5(1):42 2016 |
| PubMed ID: 27724973 |
| |
| Pratt VM, Everts RE, Aggarwal P, Beyer BN, Broeckel U, Epstein-Baak R, Hujsak P, Kornreich R, Liao J, Lorier R, Scott SA, Smith CH, Toji LH, Turner A, Kalman LV., The whole genome sequences and experimentally phased haplotypes of over 100 personal genomes. Characterization of 137 Genomic DNA Reference Materials for 28 Pharmacogenetic Genes: A GeT-RM Collaborative Project.18(1):109-23 2016 |
| PubMed ID: 26621101 |
| |
| Cai X, Evrony GD, Lehmann HS, Elhosary PC, Mehta BK, Poduri A, Walsh CA, Single-cell, genome-wide sequencing identifies clonal somatic copy-number variation in the human brain. Cell Rep8 (5):1280-9 2014 |
| PubMed ID: 25159146 |
| |
| Church GM, The personal genome project. Mol Syst Biol.1, 2005.0030:1280-9 2005 |
| PubMed ID: 16729065 |
|
|