Ricerc@Sapienza

The 22q11.2 deletion syndrome (22q11.2DS) results from non-allelic homologous recombination between low-copy repeats termed LCR22. About 60%–70% of individuals with the typical 3 megabase (Mb) deletion from LCR22A-D have congenital heart disease, mostly of the conotruncal type (CTD), whereas others have normal cardiac anatomy. In this study, we tested whether variants in the hemizygous LCR22A-D region are associated with risk for CTDs on the basis of the sequence of the 22q11.2 region from 1,053 22q11.2DS individuals.

Advancements in technologies employed in high-throughput next-generation sequencing
(NGS) methods are supporting the spread of studies that, combined with advances in computational
biology and bioinformatics, have greatly accelerated discoveries within basic and biomedical research
for many parasitic diseases. Here, we review the most updated “omic” studies performed on anisakid
nematodes, a family of marine parasites that are causative agents of the fish-borne zoonosis known as