Alternative Splicing Regulation of Anthocyanin Biosynthesis in Camellia sinensis var. assamica Unveiled by PacBio Iso-Seq

Although the pathway and transcription factor regulation of anthocyanin biosynthesis in tea plants [ Camellia sinensis (L.) O. Ktze] are known, post-transcriptional regulation mechanisms involved in anthocyanin accumulation have not been comprehensively studied. We obtained the full-length transcriptome of a purple cultivar (‘Zijuan’) and a normal green cultivar (‘Yunkang 10#) of C. sinensis var….

Evaluating the extent of reusability of CYP2C19 genotype data among patients genotyped for antiplatelet therapy selection

Genotype-guided antiplatelet therapy is increasingly being incorporated into clinical care. The purpose of this study is to determine the extent to which patients initially genotyped for CYP2C19 to guide antiplatelet therapy were prescribed additional medications affected by CYP2C19. We assembled a cohort of patients from eight sites performingCYP2C19 genotyping to inform antiplatelet therapy….

GWAS Identifies Risk Loci for Breast Cancer Subtypes

Montserrat Garcia-Closas and colleagues report findings from a new genome-wide association study (GWAS) for breast cancer identifying 32 novel susceptibility loci. Importantly, this study reveals genetic risk for breast cancer subtypes and expands the potential for the development of subtype-specific polygenic risk scores.

An activating germline IDH1 variant associated with a tumor entity characterized by unilateral and bilateral chondrosarcoma of the mastoid

Chondrogenic tumors involving the temporal bone are rare and typically arise spontaneously with unilateral presentation. Somatic IDH mutations are common in these tumors, but germline inheritance has not been documented to our knowledge. We describe familial chondrosarcoma, grade 1, of the mastoid with unilateral presentation in the mother and bilateral presentation in each of her two children….

Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum (PROS)

Individuals with orofacial asymmetry due to mucosal overgrowths, ipsilateral bone and dental aberrations with perineurial hyperplasia and/or perineuriomatous pseudo-onion bulb proliferations, comprise a recognizable clinical entity. In this report, we describe three individuals with this clinical entity and mosaic PIK3CA variants, c.3140A>G; p.(His1047Arg), c.328_330delGAA; p.(Glu110del), and…

Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes

Congenital diaphragmatic hernia (CDH) is associated with significant mortality and long-term morbidity in some but not all individuals. We hypothesize monogenic factors that cause CDH are likely to have pleiotropic effects and be associated with worse clinical outcomes. We enrolled and prospectively followed 647 newborns with CDH and performed genomic sequencing on 462 trios to identify de novo…