Identification of complex genetic variants, including defects in gene regulatory circuits and uncharacterized genes, present challenges for rare disease diagnosis. In the Genomic Answers for Kids (GA4K) program we apply the joint interpretation of patient genome sequence with genomic endophenotypes to expand the clinically actionable genome among pediatric cases of suspected genetic disease. Our objective is to examine the role of novel and under-interpreted sequence variation by combining complete DNA sequences, personal epigenetic variations and massively parallel functional screens. To achieve this we perform augmented whole genome sequence (WGS) interpretation, including reanalysis of clinical exomes, as well as generation of WGS for patients with negative exome results, all subject to a family-based semi-automated recall pipeline to discover missed diagnostic variation. We use linked-read and long-read sequencing technologies to focus on putative structural variants missed in short-read genome and exome analysis by the optimized integration of linked and long read technologies that also improve identification of transmission patterns of all variants, as well as resolving...
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Children’s Mercy Kansas City - Genomic Answers for Kids (GA4K) is published on HiFi Solves.