Anna Vähärautio

TL;DR: Unique molecular identifiers (UMIs), which make each molecule in a population distinct, are applied to genome-scale human karyotyping and mRNA sequencing in Drosophila melanogaster to improve accuracy of almost any next-generation sequencing method.

TL;DR: The genome of the Glanville fritillary butterfly, a widely recognized model species in metapopulation biology and eco-evolutionary research, is reported, which shows that fusion chromosomes have retained the ancestral chromosome segments and very few rearrangements have occurred across the fusion sites.

TL;DR: It is established that a cancer-associated SNP identified in genome-wide association studies has a functional effect in vivo, and may play a causal role in human cancer, presumably through altered regulation of MYC.

TL;DR: Transcriptional differences among leiomyomas harboring different genetic drivers, including high mobility group AT-hook 2 (HMGA2) rearrangements, mediator complex subunit 12 (MED12) mutations, biallelic inactivation of fumarate hydratase (FH), and collagen, type IV, alpha 5 andcollagen, typeIV, alpha 6 deletions are explored.

TL;DR: Findings indicate that uterine leiomyoma-linked mutations in MED12 uncouple Cyclin C-CDK8/19 from core Mediator and further identify the MED12/Cyclin C interface as a prospective therapeutic target in CDK8-driven cancers.