Rebecca E. McIntyre

TL;DR: These sequences provide a starting point for a new era in the functional analysis of a key model organism and show that the molecular nature of functional variants and their position relative to genes vary according to the effect size of the locus.

TL;DR: It is shown that deficiency in expression of PARK2 is significantly associated with adenomatous polyposis coli (APC) deficiency in human colorectal cancer, and it is concluded that Park2 is a tumor suppressor gene whose haploinsufficiency cooperates with mutant APC in colore CT cancers.

TL;DR: The phenotype of the Btbd12 knockout mouse is described, the mouse ortholog of SLX4, which recapitulates many key features of the human genetic illness Fanconi anemia and genetically links a regulator of nuclease incision complexes to the FanconiAnemia DNA crosslink repair pathway.

TL;DR: In the Cds2 gene, evidence for RNA editing acting to preserve the ancestral transcript sequence despite genomic sequence divergence is found, showing that despite over two million years of evolutionary divergence, the sites edited and the level of editing at each site is remarkably consistent across the 15 strains.

TL;DR: The results suggest that recessive coding variants account for a small fraction of currently undiagnosed nonconsanguineous individuals, and that the role of noncoding variants, incomplete penetrance, and polygenic mechanisms need further exploration.