The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Despite the clinical significance of balanced chromosomal abnormalities (BCAs), their characterization has largely been restricted to cytogenetic resolution. We explored the landscape of BCAs at nucleotide resolution in 273 subjects with a spectrum of congenital anomalies. Whole-genome sequencing revised 93% of karyotypes and demonstrated complexity that was cryptic to karyotyping in 21% of BCAs, highlighting the limitations of conventional cytogenetic approaches. At least 33.9% of BCAs resulted in gene disruption that likely contributed to the developmental phenotype, 5.2% were associated with pathogenic genomic imbalances, and 7.3% disrupted topologically associated domains (TADs) encompassing known syndromic loci. Remarkably, BCA breakpoints in eight subjects altered a single TAD encompassing MEF2C, a known driver of 5q14.3 microdeletion syndrome, resulting in decreased MEF2C expression. We propose that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology

Garden City Geotechnical, Transportation and Structural / Pronto Engineering

Garden City, ID does not currently have water storage facilities within its boundaries. It currently does have 10 potable water supply wells serving nearly 6,000 residents and businesses in the city limits. Pronto Engineering has teamed up with No B.S. Engineering in order to provide the design plans for a new Reservoir and Booster Pump Station, to be located on a city-owned parcel of land at 201 E. 46th Street. This will provide equalization and fire suppression storage for the east end of Garden City, ID. Extensive coordinated communication is expected to occur with No B.S. Engineering in order to complete the design of the new reservoir and booster pump station. Information provided by No B.S. Engineering will allow Pronto Engineering to determine all required permits, design the water storage reservoir and pump station building, associated foundations, realignment of 46th Street access, design of the site stormwater management system, and enhance Chinden Boulevard access to the new site