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PGP Participant Survey
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Responses submitted 2/24/2012 2:49:11.
Show responses
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| Timestamp |
2/24/2012 2:49:11 |
| Year of birth |
30-39 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. |
1. Obstructive sleep apnea ( API of 55). Questions based on this disease.
I have 5 close relatives of varying weights, genders, and ages with this on one side of my family spanning multiple generations, 1 on the other side. They are verified by sleep studies and using CPAP.
2. Secondary Hypogonadism from corticosteroid reaction.
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| Disease/trait: Onset |
10-19 years of age |
| Disease/trait: Rarity |
Fairly common |
| Disease/trait: Severity |
Moderate severity disease |
| Disease/trait: Relative enrollment |
Yes, I have one or more affected relatives who have expressed an interest |
| Disease/trait: Diagnosis |
Yes |
| Disease/trait: Genetic confirmation |
No |
| Disease/trait: Documentation |
Yes |
| Disease/trait: Documentation description |
1. For Obstructive Sleep Apnea: 5 sleep study results for myself. And a summary of nose and throat surgery to increase oral airway. 23andme data for myself, and up to 3 other relatives affected by this for comparison.
2. For Secondary Hypogonadism induced by corticosteroid: 6 tests for total testosterone, SHBG, Estradiol, LH, FSH, pituitary. Semen analysis before, during and after corticosteroid treatment. YSTR data for recLOH markers, YSTR medical test results ruling out DAZ Y Chromosome deletions, karyotype analysis normal male results.
Private YDNA SNP null allele by lack of PCR result. Indicating either a micro deletion or an X to Y crossover event in the Yp11.2 region. Tested in over 300 other men, all returning PCR results except for my line.
This could be useful in calibrating your YDNA testing results if it is unrelated to my condition. If interested, I can provide the rs number, position, and primers used. |
| Sex/Gender |
Male |
| Race/ethnicity |
White |
| Maternal grandmother: Country of origin |
United States |
| Paternal grandmother: Country of origin |
United States |
| Paternal grandfather: Country of origin |
United States |
| Maternal grandfather: Country of origin |
United States |
| Enrollment of relatives |
No |
| Enrollment of older individuals |
Yes |
| Enrollment of parents |
Maybe |
| 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 |
Yes |
| Tissue samples from autopsy |
Yes |
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PGP Participant Survey
|
Responses submitted 5/10/2012 14:33:28.
Show responses
|
| Timestamp |
5/10/2012 14:33:28 |
| Year of birth |
30-39 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. |
1. Obstructive sleep apnea ( API of 55). Questions based on this disease. I have several relatives of varying weights, genders, and ages with this on both sides of my family spanning multiple generations, They are verified by sleep studies.
2. Secondary Hypogonadism from corticosteroid reaction. |
| Disease/trait: Onset |
10-19 years of age |
| Disease/trait: Rarity |
Fairly common |
| Disease/trait: Severity |
Moderate severity disease |
| Disease/trait: Relative enrollment |
Yes, I have one or more affected relatives who have expressed an interest |
| Disease/trait: Diagnosis |
Yes |
| Disease/trait: Genetic confirmation |
No |
| Disease/trait: Documentation |
Yes |
| Disease/trait: Documentation description |
1. For Obstructive Sleep Apnea: 5 sleep study results for myself. And a summary of nose and throat surgery to increase oral airway. 2. For Secondary Hypogonadism induced by corticosteroid: 6 tests for total testosterone, SHBG, Estradiol, LH, FSH, pituitary. Semen analysis before, during and after corticosteroid treatment. YSTR data for recLOH markers, YSTR medical test results ruling out DAZ Y Chromosome deletions, karyotype analysis normal male results. Private YDNA SNP null allele by lack of PCR result, indicating either a micro deletion or an X to Y crossover event. |
| Sex/Gender |
Male |
| Race/ethnicity |
White |
| Maternal grandmother: Country of origin |
United States |
| Paternal grandmother: Country of origin |
United States |
| Paternal grandfather: Country of origin |
United States |
| Maternal grandfather: Country of origin |
United States |
| Enrollment of relatives |
No |
| Enrollment of older individuals |
Yes |
| Enrollment of parents |
Maybe |
| 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 |
