Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability حسب Farah R. Zahir (18892108)

"…The <i>de novo</i> assembly resulted in unmasking hidden genome instability that was missed by standard re-alignment based algorithms. We also interrogated regulatory sequence variation for known and hypothesized ID genes and present useful strategies for WGS data analyses for non-coding variation.…"