Comprehensive variant calling from whole-genome sequencing identifies a complex inversion that disrupts ZFPM2 in familial congenital diaphragmatic hernia.
Thomas J NicholasNajla Al-SweelAndrew FarrellRong MaoPinar Bayrak-ToydemirChristine E MillerDawn BentleyRachel PalmquistBarry MooreEdgar J HernandezMichael J CormierEric FredricksonKatherine NobleShawn RynearsonCarson HoltMary Anne KarrenJoshua Leith BonkowskyMartin Tristani-FirouziMark YandellGabor MarthAaron R QuinlanLuca BrunelliReha M ToydemirBrian J ShayotaJohn C CareySteven E BoydenSabrina Malone JenkinsPublished in: Molecular genetics & genomic medicine (2022)
Our results demonstrate that complex structural events, which often are unidentifiable or not reported by clinically validated testing procedures, can be discovered and accurately characterized with conventional, short-read sequencing and underscore the utility of WGS as a first-line diagnostic tool.