NERINE reveals rare variant associations in gene networks across multiple phenotypes and implicates an subnetwork in Parkinson's disease.

Gene networks encapsulate biological knowledge, often linked to polygenic diseases. While model system experiments generate many plausible gene networks, validating their role in human phenotypes requires evidence from human genetics. Rare variants provide the most straightforward path for such validation.

Design and implementation of an action plan for justice, equity, diversity, and inclusion within the Clinical Genome Resource.

How might members of a large, multi-institutional research and resource consortium foster justice, equity, diversity, and inclusion as central to its mission, goals, governance, and culture? These four principles, often referred to as JEDI, can be aspirational-but to be operationalized, they must be supported by concrete actions, investments, and a persistent long-term commitment to the principles themselves, which often requires self-reflection and course correction. We present here the iterative design process implemented across the Clinical Genome Resource (ClinGen) that led to the development of an action plan to operationalize JEDI principles across three major domains, with specific deliverables and commitments dedicated to each. Active involvement of consortium leadership, buy-in from its members at all levels, and support from NIH program staff at pivotal stages were essential to the success of this effort.

Volumetric Humeral Canal Fill Ratio Effects Primary Stability and Cortical Bone Loading in Short and Standard Stem Reverse Shoulder Arthroplasty: A Biomechanical and Computational Study.

Objective: This study evaluated the effect of three-dimensional (3D) volumetric humeral canal fill ratios (VFR) of reverse shoulder arthroplasty (RSA) short and standard stems on biomechanical stability and bone deformations in the proximal humerus.

Methods: Forty cadaveric shoulder specimens were analyzed in a clinical computed tomography (CT) scanner allowing for segmentation of the humeral canal to calculate volumetric measures which were verified postoperatively with plain radiographs. Virtual implant positioning allowed for group assignment (VFR < 0.

Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results.

Objective: Tuberous sclerosis complex (TSC) results from overactivity of the mechanistic target of rapamycin (mTOR). Sirolimus and everolimus are mTOR inhibitors that treat most facets of TSC but are understudied in infants. We sought to understand the safety and potential efficacy of preventative sirolimus in infants with TSC.

Corrigendum to "Angle-dependent spectral reflectance material dataset based on 945 nm time-of-flight camera measurements" Data in Brief 48 (2023) 109031.

[This corrects the article DOI: 10.1016/j.dib.