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Public Profile -- hu618103

Public profile url: https://my.pgp-hms.org/profile/hu618103

Personal Health Records

None added.

Samples

Boston, MA blood collection September 20, 2014 Sample 17967105 (whole blood) mailed 2014-09-20 21:00:00 UTC by hu618103.   Show log
2014-09-20 22:30:00 UTC Harvard University / TeloMe, Inc. Sample shipped to CGI
2014-09-20 21:00:00 UTC Harvard University / TeloMe, Inc. Sample received by researcher
2014-09-20 21:00:00 UTC hu618103 Sample returned to researcher
2014-09-20 13:00:00 UTC hu618103 Sample received by participant
2014-09-19 20:07:45 UTC Harvard University / TeloMe, Inc. Sample created
Sample 15840470 (whole blood) mailed 2014-09-20 21:00:00 UTC by hu618103.   Show log
2014-09-20 21:00:00 UTC Harvard University / TeloMe, Inc. Sample received by researcher
2014-09-20 21:00:00 UTC hu618103 Sample returned to researcher
2014-09-20 13:00:00 UTC hu618103 Sample received by participant
2014-09-19 20:07:45 UTC Harvard University / TeloMe, Inc. Sample created

Uploaded data

Date Data type Source Name Download Report
2017-02-27 Complete Genomics PGP hu618103: var-GS000040188-ASM.tsv.bz2 Download
(1.2 GB)
View report
• male
• 2,768,267,096 positions covered
• ref. b37
2013-03-11 health records - PDF or text Participant MGH transcript 2008 - 2013 hu618103 Download
(967 KB)

Geographic Information

State:Massachusetts
Zip code:01982

Family Members Enrolled

None added.

Surveys

PGP Participant Survey Responses submitted 4/2/2013 13:00:49. Show responses
Timestamp 4/2/2013 13:00:49
Year of birth 40-49 years
Which statement best describes you? I am comfortable making my genome sequence data publicly available without prior review.
Severe disease or rare genetic trait Yes
Do you have a severe genetic disease or rare genetic trait? If so, you can add a description for your public profile. Adult onset mitochondrial cytopathy - fatty acid oxidation disorder
Disease/trait: Onset 40-49 years of age
Disease/trait: Rarity Uncommon
Disease/trait: Severity Moderate severity disease
Disease/trait: Relative enrollment No
Disease/trait: Diagnosis Yes
Disease/trait: Genetic confirmation No
Disease/trait: Documentation Yes
Disease/trait: Documentation description PDF record transcript from Mass General including muscle biopsy results, lab work, and clinician's notes.
Sex/Gender Male
Race/ethnicity White
Maternal grandmother: Country of origin Ireland
Paternal grandmother: Country of origin Ireland
Paternal grandfather: Country of origin Austria
Maternal grandfather: Country of origin Ireland
Enrollment of relatives No
Enrollment of older individuals Yes
Enrollment of parents Maybe
Have you uploaded genetic data to your PGP participant profile? No, I have no genetic data.
Have you used the PGP web interface to record a designated proxy? Yes
Have you uploaded health record data using our Google Health or Microsoft Healthvault interfaces? No, but I plan to
Blood sample Yes
Saliva sample Yes
Microbiome samples Yes
Tissue samples from surgery Yes
Tissue samples from autopsy Yes
PGP Trait & Disease Survey 2012: Cancers Responses submitted 4/2/2013 13:22:30. Show responses
Timestamp 4/2/2013 13:22:30
Other condition not listed here? atypical nevus
PGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity Responses submitted 4/2/2013 13:23:36. Show responses
Timestamp 4/2/2013 13:23:36
Have you ever been diagnosed with any of the following conditions? High cholesterol (hypercholesterolemia), High triglycerides (hypertriglyceridemia)
Other condition not listed here? Adult onset mitochondrial cytopathy - fatty acid oxidation disorder
PGP Trait & Disease Survey 2012: Blood Responses submitted 4/2/2013 13:24:17. Show responses
Timestamp 4/2/2013 13:24:17
PGP Trait & Disease Survey 2012: Nervous System Responses submitted 4/2/2013 13:25:23. Show responses
Timestamp 4/2/2013 13:25:23
Other condition not listed here? Adult onset mitochondrial cytopathy - fatty acid oxidation disorder
PGP Trait & Disease Survey 2012: Vision and hearing Responses submitted 4/2/2013 13:26:11. Show responses
Timestamp 4/2/2013 13:26:11
Have you ever been diagnosed with one of the following conditions? Myopia (Nearsightedness), Astigmatism, Tinnitus
PGP Trait & Disease Survey 2012: Circulatory System Responses submitted 4/2/2013 13:26:50. Show responses
Timestamp 4/2/2013 13:26:50
PGP Trait & Disease Survey 2012: Respiratory System Responses submitted 4/2/2013 13:27:09. Show responses
Timestamp 4/2/2013 13:27:09
PGP Trait & Disease Survey 2012: Digestive System Responses submitted 4/2/2013 13:28:00. Show responses
Timestamp 4/2/2013 13:28:00
Have you ever been diagnosed with any of the following conditions? Impacted tooth, Dental cavities, Canker sores (oral ulcers), Appendicitis
PGP Trait & Disease Survey 2012: Genitourinary Systems Responses submitted 4/2/2013 13:28:25. Show responses
Timestamp 4/2/2013 13:28:25
PGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue Responses submitted 4/2/2013 13:30:58. Show responses
Timestamp 4/2/2013 13:30:58
Have you ever been diagnosed with any of the following conditions? Dandruff, Allergic contact dermatitis, Keloids, Hair loss (includes female and male pattern baldness), Acne
Other condition not listed here? Actinic Keratosis
PGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue Responses submitted 4/2/2013 13:32:01. Show responses
Timestamp 4/2/2013 13:32:01
PGP Trait & Disease Survey 2012: Congenital Traits and Anomalies Responses submitted 4/2/2013 13:33:06. Show responses
Timestamp 4/2/2013 13:33:06
PGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue Responses submitted 4/2/2013 13:34:19. Show responses
Timestamp 4/2/2013 13:34:19
Other condition not listed here? Actinic Keratosis, atypical nevus
PGP Participant Survey Responses submitted 6/2/2016 19:08:32. Show responses
Timestamp 6/2/2016 19:08:32
Year of birth 1964
Do you have a severe genetic disease or rare genetic trait? If so, you can add a description for your public profile. none
Sex/Gender Male
Race/ethnicity White
Maternal grandmother: Country of origin Ireland
Paternal grandmother: Country of origin Ireland
Paternal grandfather: Country of origin Austria
Maternal grandfather: Country of origin Ireland
Month of birth November
Anatomical sex at birth Male
Maternal grandmother: Race/ethnicity White
Maternal grandfather: Race/ethnicity White
Paternal grandmother: Race/ethnicity White
Paternal grandfather: Race/ethnicity White
PGP Basic Phenotypes Survey 2015 Responses submitted 6/2/2016 19:10:55. Show responses
Timestamp 6/2/2016 19:10:55
1.1 — Blood Type O +
1.2 — Height 6'3"
1.3 — Weight 170
2.1 — Left Eye (Photograph Number) (full-size image: https://goo.gl/XQ2Voh) 4
2.2 — Right Eye (Photograph Number) (full-size image: https://goo.gl/XQ2Voh) 4
2.3 — Left Eye Color - Text Description blue
2.4 — Right Eye Color - Text Description same
3.1 — What is your natural hair color currently, when without artificial color or dye? gray
1.4 — Handedness Right

Absolute Pitch Survey [see all responses]

Can tell if notes are in tune: Not sure
Can sing a melody on key: No
Can recognize musical intervals: Not sure
Do you have absolute pitch? No

Enrollment History

Participant ID:hu618103
Account created:2013-03-29 15:54:53 UTC
Eligibility screening:2013-03-29 15:57:02 UTC (passed v2)
Exam:2013-03-29 16:37:22 UTC (passed v20120430)
Consent:2015-08-06 14:33:24 UTC (passed v20150505)
Enrolled:2013-04-02 14:27:41 UTC