High Altitude Pulmonary Hypertension
The Central Asian Kyrgyz highland population provides a unique opportunity to address genetic diversity and understand the genetic mechanisms underlying hypoxia-induced high altitude pulmonary hypertension (HAPH). While a significant fraction of the population is unaffected, there are susceptible individuals who display HAPH in the absence of any lung, cardiac or hematologic disease. We report herein the analysis of the whole genome sequencing of healthy individuals compared with HAPH patients and other controls. In this study, 34 male individuals from Central Asian Kyrgyz highland are sequenced with Illumina HiSeq 2000 with mean-coverage of 30X.
- 34 samples
- DAC: EGAC00001000994
- Technology: Illumina HiSeq 2000
Genesis of hyperreactivity of the pulmonary vessels
We would like to invite you to participate in a research project. You should not take part in the study if you do not wish to do so. If you do decide to take part, please let us know beforehand if you have been involved in any other study during the last year. You are free to withdraw at any time without explanation. We would like you to attend our hospitaI. In a first we will check your health, by examining you and sending some blood for routine hematology, biochemistry and DNA for genetic study. The DNA will be used only for study the role of gene candidates in genesis of hyperreactivity of the pulmonary vessels. All DNA will be coded without using patient's name. On the second you will have a small tube (catheter) placed through a vein in your neck through to your heart to record blood pressure. You will then breathe a low oxygen gas mixture for 30 minutes. During this period your blood pressure will be recorded. In 30 minutes of breathe we will take the blood samples for biochemistry. After this the catheter will be removed. If you decide to take part in this study you should sign the participant consent form. The local Research Ethics Committee has approved the above statement.
Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.
| Study ID | Study Title | Study Type |
|---|---|---|
| EGAS00001003171 | Other |
This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.
| ID | File Type | Size | Located in | |
|---|---|---|---|---|
| EGAF00002066536 | bam | 73.3 GB | ||
| EGAF00002066537 | bam | 81.2 GB | ||
| EGAF00002066538 | bam | 64.8 GB | ||
| EGAF00002066541 | bam | 97.3 GB | ||
| EGAF00002066542 | bam | 81.1 GB | ||
| EGAF00002066543 | bam | 77.0 GB | ||
| EGAF00002066544 | bam | 69.9 GB | ||
| EGAF00002066553 | bam | 111.0 GB | ||
| EGAF00002066554 | bam | 106.7 GB | ||
| 9 Files (762.2 GB) | ||||