HiFi long-read genomes for difficult-to-detect, clinically relevant variants.

Clinical short-read exome and genome sequencing approaches have positively impacted diagnostic testing for rare diseases. Yet, technical limitations associated with short reads challenge their use for the detection of disease-associated variation in complex regions of the genome. Long-read sequencing (LRS) technologies may overcome these challenges, potentially qualifying as a first-tier test for all rare diseases.

Exercise prior to cognitive behavior therapy sessions for depression: a feasibility pilot study.

Exercise directly improves mood and cognition. Providing exercise immediately before cognitive behavior therapy (CBT) sessions may therefore enhance the clinical responsiveness to CBT. The present pilot study examined the feasibility and direction of effect of exercise+CBT versus CBT in depressed outpatients using a stepped wedged design.

Exposure therapy consortium: Outcomes of the proof-of-principle study.

Background: This paper reports on the outcomes of a proof-of-principle study for the Exposure Therapy Consortium, a global network of researchers and clinicians who work to improve the effectiveness and uptake of exposure therapy. The study aimed to test the feasibility of the consortium's big-team science approach and test the hypothesis that adding post-exposure processing focused on enhancing threat reappraisal would enhance the efficacy of a one-session large-group interoceptive exposure therapy protocol for reducing anxiety sensitivity.

Methods: The study involved a multi-site cluster-randomized controlled trial comparing exposure with post-processing (ENHANCED), exposure without post-processing (STANDARD), and a stress management intervention (CONTROL) in students with elevated anxiety sensitivity.

Generation and characterization of CRISPR-Cas9-mediated XPC gene knockout in human skin cells.

Xeroderma pigmentosum group C (XPC) is a versatile protein crucial for sensing DNA damage in the global genome nucleotide excision repair (GG-NER) pathway. This pathway is vital for mammalian cells, acting as their essential approach for repairing DNA lesions stemming from interactions with environmental factors, such as exposure to ultraviolet (UV) radiation from the sun. Loss-of-function mutations in the XPC gene confer a photosensitive phenotype in XP-C patients, resulting in the accumulation of unrepaired UV-induced DNA damage.

Efficacy of traditional and gamified attention bias modification for depression: Study protocol for a randomized controlled trial.

Cognitive models posit that negatively biased attention toward dysphoric information has a causal role in the maintenance of depression-related psychopathology. Attention bias modification (ABM) tests this idea by altering an attentional bias and examining subsequent effects on depression. Prior work finds that ABM alters negatively biased attention for dysphoric information and reduces depression; however, a number of studies have failed to show these effects.