Genetics causes of male infertility in 185 patient-parent trios from Netherlands and UK

Study ID Alternative Stable ID Type
EGAS00001005417 Other

Study Description

In this, whole exome sequencing was performed on 185 patients suffering from Azoospermia or severe oligozoospermia and on their respective fertile parents in order to investigate de novo and inherited genetic variants likely to be the cause of infertility in these men. After bioinformatic analysis and comprehensive variant interpretation several de novo point mutations and copy number variations were identified as well as multiple homozygous and compound heterozygous mutations in recessive genes that are likely influencing the infertility phenotypes observed in the patients.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
The dataset is composed by the raw and processed sequencing data generated from 185 Patients affected by azoospermia or severe oligozoospermia recruited from the Netherlands and the UK.
Illumina NovaSeq 6000,NextSeq 500 555

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