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
|
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|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Sample
15840470
(whole blood)
mailed
2014-09-20 21:00:00 UTC
by
hu618103.
Show log
|
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 |
