Determinants of health-related quality of life of patients with focal epilepsy: A systematic literature review.

Objective: Focal epilepsy can have significant negative impacts on a person's health-related quality of life (HRQoL). Although studies have been published on HRQoL in persons with focal epilepsy (PWFE), determinants of HRQoL have not been comprehensively examined. This systematic literature review (SLR) queried existing literature to identify aspects associated with HRQoL in PWFE without focus on resective epilepsy surgery, with an interest in identifying modifiable determinants for medical/nonmedical interventions.

Development, Implementation, and Formative Evaluation of a Social Needs Screening Tool.

We aim to develop and formatively evaluate a brief social needs screening tool that adheres to Massachusetts Department of Public Health (MDPH) clinical service standards for sexual and reproductive health (SRH) agencies and is acceptable and feasible for use by staff during a clinical encounter. Through a multi-stage literature and expert review process, we developed an evidence-informed, two-page social needs screening tool, scoring form, and implementation guide. We piloted this tool at three SRH agencies in Massachusetts and recruited staff to provide quantitative and qualitative feedback through post-pilot test self-reported surveys and semi-structured interviews.

Aquila_stLFR: diploid genome assembly based structural variant calling package for stLFR linked-reads.

Motivation: Identifying structural variants (SVs) is critical in health and disease, however, detecting them remains a challenge. Several linked-read sequencing technologies, including 10X Genomics, TELL-Seq and single tube long fragment read (stLFR), have been recently developed as cost-effective approaches to reconstruct multi-megabase haplotypes (phase blocks) from sequence data of a single sample. These technologies provide an optimal sequencing platform to characterize SVs, though few computational algorithms can utilize them.

Aquila enables reference-assisted diploid personal genome assembly and comprehensive variant detection based on linked reads.

We introduce Aquila, a new approach to variant discovery in personal genomes, which is critical for uncovering the genetic contributions to health and disease. Aquila uses a reference sequence and linked-read data to generate a high quality diploid genome assembly, from which it then comprehensively detects and phases personal genetic variation. The contigs of the assemblies from our libraries cover >95% of the human reference genome, with over 98% of that in a diploid state.