Personal Genome Project

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Public Profile -- hu5FA322

Public profile url: https://my.pgp-hms.org/profile/hu5FA322

Real Name

Lois J Roberts

Personal Health Records

None added.

Samples

PGP Blood Collection Sample 32619745 (whole blood) received 2012-05-02 13:49:02 UTC by Coriell.   Show log
2012-05-02 13:49:02 UTC Coriell Sample received by researcher
2012-05-02 13:49:02 UTC Coriell Sample received by researcher
2012-04-25 22:30:00 UTC Harvard University Sample shipped to Coriell
2012-04-25 21:00:00 UTC huD3EB0D Sample received by researcher
2012-04-25 21:00:00 UTC hu5FA322 Sample returned to researcher
2012-04-25 13:00:00 UTC hu5FA322 Sample received by participant
2012-04-25 02:17:39 UTC huD3EB0D Sample sent
2012-04-24 20:25:40 UTC huD3EB0D Sample created
Sample 8226051 (whole blood) received 2012-05-02 13:49:01 UTC by Coriell.   Show log
2012-05-02 13:49:02 UTC Coriell Sample received by researcher
2012-05-02 13:49:01 UTC Coriell Sample received by researcher
2012-04-25 22:30:00 UTC Harvard University Sample shipped to Coriell
2012-04-25 21:00:00 UTC huD3EB0D Sample received by researcher
2012-04-25 21:00:00 UTC hu5FA322 Sample returned to researcher
2012-04-25 13:00:00 UTC hu5FA322 Sample received by participant
2012-04-25 02:17:39 UTC huD3EB0D Sample sent
2012-04-24 20:25:40 UTC huD3EB0D Sample created
Sample 38191598 (whole blood) received 2012-05-02 13:49:02 UTC by Coriell.   Show log
2012-05-02 13:49:02 UTC Coriell Sample received by researcher
2012-05-02 13:49:02 UTC Coriell Sample received by researcher
2012-04-25 22:30:00 UTC Harvard University Sample shipped to Coriell
2012-04-25 21:00:00 UTC huD3EB0D Sample received by researcher
2012-04-25 21:00:00 UTC hu5FA322 Sample returned to researcher
2012-04-25 13:00:00 UTC hu5FA322 Sample received by participant
2012-04-25 02:17:39 UTC huD3EB0D Sample sent
2012-04-24 20:25:40 UTC huD3EB0D Sample created
Sample 61581624 (whole blood) received 2012-04-26 16:00:00 UTC by Feinstein Institute.   Show log
2012-04-26 16:00:00 UTC Feinstein Institute Sample received by researcher
2012-04-25 21:00:00 UTC hu5FA322 Sample returned to researcher
2012-04-25 13:00:00 UTC hu5FA322 Sample received by participant
2012-04-25 02:17:38 UTC huD3EB0D Sample sent
2012-04-24 20:25:40 UTC huD3EB0D Sample created
Sample 9809588 (whole blood) received 2012-04-26 16:00:00 UTC by Feinstein Institute.   Show log
2012-04-26 16:00:00 UTC Feinstein Institute Sample received by researcher
2012-04-25 21:00:00 UTC hu5FA322 Sample returned to researcher
2012-04-25 13:00:00 UTC hu5FA322 Sample received by participant
2012-04-25 02:17:38 UTC huD3EB0D Sample sent
2012-04-24 20:25:40 UTC huD3EB0D Sample created
Human Microbiome: diversity of microorganisms on and in the human body Sample 94430262 (microbiome) received 2012-04-26 16:00:00 UTC by huD3EB0D.   Show log
2012-04-26 16:00:00 UTC huD3EB0D Sample claimed and received from participant at GET2012
2012-04-25 02:18:11 UTC huD3EB0D Sample sent
2012-04-23 17:01:08 UTC hu5D9DE3 Sample created
Sample 58670329 (microbiome) received 2012-04-26 16:00:00 UTC by huD3EB0D.   Show log
2012-04-26 16:00:00 UTC huD3EB0D Sample claimed and received from participant at GET2012
2012-04-25 02:18:11 UTC huD3EB0D Sample sent
2012-04-23 17:01:08 UTC hu5D9DE3 Sample created
Sample 71033259 (microbiome) received 2012-04-26 16:00:00 UTC by huD3EB0D.   Show log
2012-04-26 16:00:00 UTC huD3EB0D Sample claimed and received from participant at GET2012
2012-04-25 02:18:11 UTC huD3EB0D Sample sent
2012-04-23 17:01:08 UTC hu5D9DE3 Sample created
Sample 81033644 (microbiome) received 2012-04-26 16:00:00 UTC by huD3EB0D.   Show log
2012-04-26 16:00:00 UTC huD3EB0D Sample claimed and received from participant at GET2012
2012-04-25 02:18:11 UTC huD3EB0D Sample sent
2012-04-23 17:01:08 UTC hu5D9DE3 Sample created
Sample 31925029 (microbiome) received 2012-04-26 16:00:00 UTC by huD3EB0D.   Show log
2012-04-26 16:00:00 UTC huD3EB0D Sample claimed and received from participant at GET2012
2012-04-25 02:18:11 UTC huD3EB0D Sample sent
2012-04-23 17:01:08 UTC hu5D9DE3 Sample created

Uploaded data

Date Data type Source Name Download Report
2013-08-09 Complete Genomics PGP CGI sample GS01669-DNA_E06 masterVarBeta report (231 MB)
2013-04-25 Complete Genomics PGP CGI sample GS01669-DNA_E06 from PGP sample Download
(233 MB)
View report
• female
• 2,757,571,008 positions covered
• ref. b37
2012-11-11 personal Participant genome for 5FA322 and C82DC0 Download
(3.73 MB)
2012-05-28 persoanl Participant 5FA322 Genetic data Download
(874 Bytes)

Geographic Information

State:New York
Zip code:13346

Family Members Enrolled

not genetically related (e.g. husband/wife) linked 2014-03-04 14:42:54 UTC

Surveys

PGP Participant Survey Responses submitted 3/4/2012 15:06:10. Show responses
Timestamp 3/4/2012 15:06:10
Year of birth 70-79 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. atypical porphyria (affects all systems - used for the rest of questions) mitochondria deletions/ROS/frail inner membranes aortic aneurysms double null - GST poor metabolizer - CYP2C19 NAT2 - catalytically inefficient cancer - prostrate/uterine
Disease/trait: Onset 10-19 years of age
Disease/trait: Rarity Uncommon
Disease/trait: Severity Very severe disease
Disease/trait: Relative enrollment Maybe
Disease/trait: Diagnosis Yes
Disease/trait: Genetic confirmation Yes
Disease/trait: Documentation Yes
Disease/trait: Documentation description mitochondria mDNA analysis, EEGs, N-acetyl transferase, double null GST,
Sex/Gender Female
Race/ethnicity White
Maternal grandmother: Country of origin United States
Paternal grandmother: Country of origin Canada
Paternal grandfather: Country of origin Canada
Maternal grandfather: Country of origin United States
Enrollment of relatives No
Enrollment of older individuals Yes
Enrollment of parents No
Have you uploaded genetic data to your PGP participant profile? No, but I have genetic data and plan to upload it
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 No
Tissue samples from autopsy Yes
PGP Participant Survey Responses submitted 9/26/2012 16:28:03. Show responses
Timestamp 9/26/2012 16:28:03
Year of birth 70-79 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. Poor detoxification - have NULL GST-T, GST-M, mutant CYP450-2D6 (ext metabolizer), CYP450-2C19 (poor metabolizer), CYP450-2C9 (ext metabolizer), NAT2 catalytically inefficient Have symptoms of "portal systemic encephalopathy" including 4-6 Hz EEG "spike & wave" familial Aortic Aneurysms
Disease/trait: Onset Before 10 years of age
Disease/trait: Rarity Fairly common
Disease/trait: Severity Very severe disease
Disease/trait: Relative enrollment Maybe
Disease/trait: Diagnosis Yes
Disease/trait: Genetic confirmation Yes
Disease/trait: Documentation Yes
Disease/trait: Documentation description The genetic data on CYP450s, Nat2, GSTs - can't figure how to upload the picture of the EEG "spike and waves" - we're trying hard to get my exome done.
Sex/Gender Female
Race/ethnicity White
Maternal grandmother: Country of origin Netherlands
Paternal grandmother: Country of origin United Kingdom
Paternal grandfather: Country of origin France
Maternal grandfather: Country of origin Ireland
Enrollment of relatives No
Enrollment of older individuals Yes
Enrollment of parents No
Have you uploaded genetic data to your PGP participant profile? Yes, I have uploaded 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 10/19/2012 13:16:06. Show responses
Timestamp 10/19/2012 13:16:06
Have you ever been diagnosed with one of the following conditions? Colon polyps, Uterine fibroids
Other condition not listed here? pre-cancer uterus cells
PGP Trait & Disease Survey 2012: Cancers Responses submitted 10/20/2012 13:12:29. Show responses
Timestamp 10/20/2012 13:12:29
Have you ever been diagnosed with one of the following conditions? Colon polyps, Cervical cancer, Uterine fibroids
PGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity Responses submitted 10/20/2012 13:15:02. Show responses
Timestamp 10/20/2012 13:15:02
Have you ever been diagnosed with any of the following conditions? Hypothyroidism, Gout, Porphyria
Other condition not listed here? a-typical porphyria
PGP Trait & Disease Survey 2012: Blood Responses submitted 10/20/2012 13:20:19. Show responses
Timestamp 10/20/2012 13:20:19
Have you ever been diagnosed with any of the following conditions? Iron deficiency anemia
Other condition not listed here? borderline anemia
PGP Trait & Disease Survey 2012: Nervous System Responses submitted 10/20/2012 13:25:58. Show responses
Timestamp 10/20/2012 13:25:58
Have you ever been diagnosed with one of the following conditions? Essential tremor, Epilepsy, Migraine without aura, Carpal tunnel syndrome, Other peripheral neuropathy
Other condition not listed here? 4-6Hz spike & wave EEG
PGP Trait & Disease Survey 2012: Vision and hearing Responses submitted 10/20/2012 13:28:13. Show responses
Timestamp 10/20/2012 13:28:13
Have you ever been diagnosed with one of the following conditions? Age-related cataract, Myopia (Nearsightedness), Astigmatism, Age-related hearing loss, Tinnitus
PGP Trait & Disease Survey 2012: Circulatory System Responses submitted 10/20/2012 13:30:32. Show responses
Timestamp 10/20/2012 13:30:32
Have you ever been diagnosed with one of the following conditions? Pulmonary embolism, Atrial fibrillation, Cardiac arrhythmia, Aortic aneurysm, Deep vein thrombosis (DVT), Varicose veins, Hemorrhoids
PGP Trait & Disease Survey 2012: Digestive System Responses submitted 10/20/2012 13:32:43. Show responses
Timestamp 10/20/2012 13:32:43
Have you ever been diagnosed with any of the following conditions? Dental cavities, Gastroesophageal reflux disease (GERD), Appendicitis, Hiatal hernia, Diverticulosis, Gallstones
Other condition not listed here? fibrous liver/gall bladder
PGP Trait & Disease Survey 2012: Genitourinary Systems Responses submitted 10/20/2012 13:34:30. Show responses
Timestamp 10/20/2012 13:34:30
Have you ever been diagnosed with any of the following conditions? Kidney stones, Urinary tract infection (UTI), Fibrocystic breast disease
Other condition not listed here? hysterectomy of uterus
PGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue Responses submitted 10/20/2012 13:36:55. Show responses
Timestamp 10/20/2012 13:36:55
Have you ever been diagnosed with any of the following conditions? Skin tags, Hair loss (includes female and male pattern baldness), Cafe au lait spots
PGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue Responses submitted 10/20/2012 13:39:36. Show responses
Timestamp 10/20/2012 13:39:36
Have you ever been diagnosed with any of the following conditions? Lupus, Rheumatoid arthritis, Osteoarthritis, Spinal stenosis, Sciatica, Bone spurs, Osteoporosis, Scoliosis
PGP Trait & Disease Survey 2012: Congenital Traits and Anomalies Responses submitted 10/20/2012 13:42:46. Show responses
Timestamp 10/20/2012 13:42:46
PGP Trait & Disease Survey 2012: Cancers Responses submitted 1/9/2013 10:09:39. Show responses
Timestamp 1/9/2013 10:09:39
Have you ever been diagnosed with one of the following conditions? Cervical cancer, Uterine fibroids
PGP Participant Survey Responses submitted 1/9/2013 10:22:06. Show responses
Timestamp 1/9/2013 10:22:06
Year of birth 70-79 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
Disease/trait: Onset 10-19 years of age
Disease/trait: Rarity Fairly common
Disease/trait: Severity Very severe disease
Disease/trait: Relative enrollment Maybe
Disease/trait: Diagnosis Yes
Disease/trait: Genetic confirmation Yes
Disease/trait: Documentation Yes
Disease/trait: Documentation description Null GST genes, EEGs, NAT gene, CYP450 genes, aneurysm CAT
Sex/Gender Female
Race/ethnicity White
Maternal grandmother: Country of origin Netherlands
Paternal grandmother: Country of origin United Kingdom
Paternal grandfather: Country of origin Other / don't know / no response
Maternal grandfather: Country of origin Ireland
Enrollment of relatives Yes
Enrollment of older individuals Yes
Enrollment of parents No
Enrolled relatives [Not genetically related (e.g. husband/wife)] 1
Are all your enrolled relatives linked to your PGP profile? Yes
Have you uploaded genetic data to your PGP participant profile? Yes, I have uploaded 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? Yes
Uploaded health records: Update status Yes
Uploaded health records: Extensiveness 4
Blood sample Yes
Saliva sample Yes
Microbiome samples Yes
Tissue samples from surgery No
Tissue samples from autopsy Yes
PGP Trait & Disease Survey 2012: Endocrine, Metabolic, Nutritional, and Immunity Responses submitted 1/9/2013 10:26:20. Show responses
Timestamp 1/9/2013 10:26:20
Have you ever been diagnosed with any of the following conditions? Hypothyroidism, Gout, Porphyria
Other condition not listed here? poor detoxification
PGP Trait & Disease Survey 2012: Blood Responses submitted 1/9/2013 10:29:16. Show responses
Timestamp 1/9/2013 10:29:16
Have you ever been diagnosed with any of the following conditions? Iron deficiency anemia
Other condition not listed here? slightlyanemic, a-typical porphyria
PGP Trait & Disease Survey 2012: Nervous System Responses submitted 1/9/2013 10:35:20. Show responses
Timestamp 1/9/2013 10:35:20
Have you ever been diagnosed with one of the following conditions? Essential tremor, Cluster headaches, Epilepsy, Carpal tunnel syndrome, Other peripheral neuropathy
Other condition not listed here? mitochondrial myopathy
PGP Trait & Disease Survey 2012: Vision and hearing Responses submitted 1/9/2013 10:38:58. Show responses
Timestamp 1/9/2013 10:38:58
Have you ever been diagnosed with one of the following conditions? Age-related cataract, Hyperopia (Farsightedness), Floaters, Age-related hearing loss
PGP Trait & Disease Survey 2012: Circulatory System Responses submitted 1/9/2013 10:43:16. Show responses
Timestamp 1/9/2013 10:43:16
Have you ever been diagnosed with one of the following conditions? Atrial fibrillation, Cardiac arrhythmia, Aortic aneurysm, Varicose veins
PGP Trait & Disease Survey 2012: Respiratory System Responses submitted 1/9/2013 10:44:01. Show responses
Timestamp 1/9/2013 10:44:01
Have you ever been diagnosed with any of the following conditions? Chronic sinusitis
PGP Trait & Disease Survey 2012: Digestive System Responses submitted 1/9/2013 10:46:01. Show responses
Timestamp 1/9/2013 10:46:01
Have you ever been diagnosed with any of the following conditions? Dental cavities, Appendicitis, Hiatal hernia, Ulcerative colitis, Irritable bowel syndrome (IBS), Gallstones
Other condition not listed here? extremely fibrous liver/gall bladder
PGP Trait & Disease Survey 2012: Genitourinary Systems Responses submitted 1/9/2013 10:52:37. Show responses
Timestamp 1/9/2013 10:52:37
Have you ever been diagnosed with any of the following conditions? Kidney stones, Urinary tract infection (UTI)
Other condition not listed here? hysterectomy due to pre-cancer cells
PGP Trait & Disease Survey 2012: Skin and Subcutaneous Tissue Responses submitted 1/9/2013 10:56:29. Show responses
Timestamp 1/9/2013 10:56:29
Have you ever been diagnosed with any of the following conditions? Cafe au lait spots
Other condition not listed here? geneeral alopecia
PGP Trait & Disease Survey 2012: Musculoskeletal System and Connective Tissue Responses submitted 1/9/2013 10:57:53. Show responses
Timestamp 1/9/2013 10:57:53
Have you ever been diagnosed with any of the following conditions? Osteoarthritis, Spinal stenosis, Bone spurs, Osteoporosis, Scoliosis

Absolute Pitch Survey [see all responses]

Can tell if notes are in tune: Yes
Can sing a melody on key: Yes
Can recognize musical intervals: Yes
Do you have absolute pitch? Not sure

Enrollment History

Participant ID:hu5FA322
Account created:2012-02-21 21:55:32 UTC
Eligibility screening:2012-02-21 22:07:04 UTC (passed v2)
Exam:2012-02-29 00:20:03 UTC (passed v2)
Consent:2015-08-06 14:31:36 UTC (passed v20150505)
Enrolled:2012-02-29 01:40:50 UTC