Comparison of mutation predictors shows that no single algorithm is the best and that combination of predictors improves negative predictive value
RNA polymerase III complexes, when bound to DNA, regulate RNA polymerase II transcription of neighboring genomic regions.
MSEA detects cancer genes by targeting unique characteristics of mutation hotspots with improved precision and reduced false positive discovery
How far could a proto-eukaryote have got before it swallowed its proto-mitochondria? Not far enough to provide the energy for phagocytosis to swallow them, say David and Buzz Baum, who have developed an alternative to the accepted theory for the origin of eukaryotes
In a randomized controlled trial, the parenting support program Stepping Stones Triple P effectively reduces psychosocial problems in children with disabilities over a 3 month period, but not after 6 months, suggesting short-term benefits of the program.
Characterization of calling errors for INDEL detection using Scalpel shows that calling improves with higher coverage, is better with assembly-based callers is discordant between WGS and WES.
Genome-wide association studies mapped 90% of loci linked to autoimmune and immune-related diseases to non-coding regions. A ‘guilt by association’ approach suggests a role for lncRNAs in autoimmunity.
Peter de Jonge and Annelieke Roest comment on research published in BMC Cardiovascular Disorders showing a J-shaped relationship between cardiometabolic risk factors and depression, highlighting the need to consider non-linear associations in medicine
Gene expression signatures of infiltrating immune cells provide prognostic and therapy-predictive information for breast cancer and are affected by tumor proliferative capacity and intrinsic subtype.
A new study confirms the long-standing hypothesis that dosage compensation complex activity results in X chromosome compaction when equalizing X-linked gene expression between sexes.
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