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Title

Autozygome-based analysis of Pakistani families with monogenic conditions

Author Atta Ur Rehman
Director of thesis Carlo Rivolta
Co-director of thesis
Summary of thesis Pakistani families provide rich genetic resources for undertaking molecular genetic studies pertaining to monogenic conditions owing to elevated level of consanguineous marriages and extended family structures. Whole exome and whole genome sequencing approaches will be applied in order to identify novel genes/mutations underlying diverse genetic disorders in these families.
Status
Administrative delay for the defence
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