Synchronized long-read genome, methylome, epigenome and transcriptome profiling resolve a Mendelian condition.

Resolving the molecular basis of a Mendelian condition remains challenging owing to the diverse mechanisms by which genetic variants cause disease. To address this, we developed a synchronized long-read genome, methylome, epigenome and transcriptome sequencing approach, which enables accurate single-nucleotide, insertion-deletion and structural variant calling and diploid de novo genome assembly. This permits the simultaneous elucidation of haplotype-resolved CpG methylation, chromatin accessibility and full-length transcript information in a single long-read sequencing run.

A Murine Database of Structural Variants Enables the Genetic Architecture of a Spontaneous Murine Lymphoma to be Characterized.

A more complete map of the pattern of genetic variation among inbred mouse strains is essential for characterizing the genetic architecture of the many available mouse genetic models of important biomedical traits. Although structural variants (SVs) are a major component of genetic variation, they have not been adequately characterized among inbred strains due to methodological limitations. To address this, we generated high-quality long-read sequencing data for 40 inbred strains; and designed a pipeline to optimally identify and validate different types of SVs.

Multicentric Castleman's Disease presenting with bilateral panuveitis.

Purpose: To report a rare case of Multicentric Castleman's Disease presenting with bilateral panuveitis.

Methods: Case report.

Results: A 65-years-old caucasian man presented with progressive blurred vision in both eyes for two weeks, along with weight loss, polyarthralgias and reduced muscle strength persisting for about a year.

A co-registration method to validate optical coherence tomography in the breast surgical cavity.

Breast-conserving surgery accompanied by adjuvant radiotherapy is the standard of care for patients with early-stage breast cancer. However, re-excision is reported in 20-30 % of cases, largely because of close or involved tumor margins in the specimen. Several intraoperative tumor margin assessment techniques have been proposed to overcome this issue, however, none have been widely adopted.

Utility and interpretation of multiple breath washout in children with cystic fibrosis.

Transformative changes in the health of children with cystic fibrosis (CF) mean that more sensitive outcome measures are needed to monitor paediatric CF lung disease. Multiple breath washout (MBW) and its primary readout lung clearance index are gaining increasing traction as an endpoint for clinical trials in the CF space and show promise as a clinical investigation. In this article, we use four clinically based questions to explore what MBW can and cannot (yet) do and highlight some of its strengths and weaknesses as an investigation.