Point-of-care whole-exome sequencing of idiopathic male infertility
Khalid A Fakhro, Haitham Elbardisi MD, Mohamed Arafa MD, Amal Robay PhD, Juan L Rodriguez-Flores PhD, Alya Al-Shakaki BPharm, Najeeb Syed MSc, Jason G Mezey PhD, Charbel Abi Khalil MD, PhD, Joel A Malek PhD, Abdulla Al-Ansari MD, Sami Al Said MD & Ronald G Crystal MDKhalid A Fakhro, Haitham Elbardisi MD, Mohamed Arafa MD, Amal Robay PhD, Juan L Rodriguez-Flores PhD, Alya Al-Shakaki BPharm, Najeeb Syed MSc, Jason G Mezey PhD, Charbel Abi Khalil MD, PhD, Joel A Malek PhD, Abdulla Al-Ansari MD, Sami Al Said MD & Ronald G Crystal MD, 12.04.2018
Fakhro, K.A., Elbardisi, H., Arafa, M. et al. Point-of-care whole-exome sequencing of idiopathic male infertility. Genet Med 20, 1365–1373 (2018)
Publication: https://doi.org/10.1038/gim.2018.10
Disclaimer
The publication Point-of-care whole-exome sequencing of idiopathic male infertility by Khalid A Fakhro, Haitham Elbardisi MD, Mohamed Arafa MD, Amal Robay PhD, Juan L Rodriguez-Flores PhD, Alya Al-Shakaki BPharm, Najeeb Syed MSc, Jason G Mezey PhD, Charbel Abi Khalil MD, PhD, Joel A Malek PhD, Abdulla Al-Ansari MD, Sami Al Said MD & Ronald G Crystal MDKhalid A Fakhro, Haitham Elbardisi MD, Mohamed Arafa MD, Amal Robay PhD, Juan L Rodriguez-Flores PhD, Alya Al-Shakaki BPharm, Najeeb Syed MSc, Jason G Mezey PhD, Charbel Abi Khalil MD, PhD, Joel A Malek PhD, Abdulla Al-Ansari MD, Sami Al Said MD & Ronald G Crystal MD is not published under an open access license.
Therefore, only content curated by the MFGA team can be shown.
For abstract, images and tables please follow the link to the original publication.
Curation by the MFGA team
Relevant data sets presented in the publication have been identified. If possible, annotations (title, general information,
conditions, processed tissue types and processed cell types) have been added based on information from the publication.
Data set 1: Identification of NOA-related genes in the families
Exome: Whole Exome Sequencing
Conditions
| Human phenotype ontology |
Participants |
Comment |
| HP:other: Other |
186 |
A total of 186 individuals underwent WES for this study: 37 from families and 149 from the idiopathic cohort. |
Cell Types
| Cell ontology |
Maturity |
Description |
Species |
Replicates |
Cells per replicate |
| CL_0000019: sperm |
|
Hormonal profile: Follicle-stimulating hormone (normal range 1–19 IU/L), Luteinizing hormone (1–9 IU/L), prolactin (73–407 mIU/L), and total Testosterone (10.4–35 nmol/L) and Estradiol (n = 73–275 pmol/L). |
|
|
|
Data set 2: Point-of-care assessment of a sporadic NOA cohort
Exome: Whole Exome Sequencing
Conditions
| Human phenotype ontology |
Participants |
Comment |
| HP:0011961: Non-obstructive azoospermia |
75 |
Idiopathic NOA cohort |
| HP:control |
74 |
74 men with a history of fathering at least 1 child. |
