Development of a Body of Knowledge for the Clinical Bioinformatician: Perspectives from the Association for Molecular Pathology's Clinical Genomics Bioinformatician Body of Knowledge Steering Committee.

The use of next-generation sequencing (NGS) and other high-throughput technologies in the clinical molecular diagnostics laboratory requires the application of bioinformatics pipelines and other computational tools to analyze, visualize, and store these clinical data. Clinical Bioinformaticians, individuals with the skills to develop, validate, and deploy these tools in a clinical setting, are needed to ensure that these molecular diagnostic technologies can be appropriately used for clinical care. Building on existing expertise in informatics, NGS, and clinical molecular diagnostics, the Association for Molecular Pathology (AMP) has generated a series to establish an initial Clinical Bioinformatician Body of Knowledge.

Recommendations for Cell-Free DNA Assay Validations: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists.

Diagnosing, selecting therapy for, and monitoring cancer in patients using a minimally invasive blood test represents a significant advance in precision medicine. Wide variability exists in how circulating tumor DNA (ctDNA) assays are developed, validated, and reported in the literature, which hinders clinical adoption and may negatively impact patient care. Standardization is needed for factors affecting ctDNA assay performance and reporting, including pre-analytical variables, analytical considerations, and elements of laboratory assay reporting.

Functional dissection and assembly of a small, newly evolved, W chromosome-specific genomic region of the African clawed frog Xenopus laevis.

Genetic triggers for sex determination are frequently co-inherited with other linked genes that may also influence one or more sex-specific phenotypes. To better understand how sex-limited regions evolve and function, we studied a small W chromosome-specific region of the frog Xenopus laevis that contains only three genes (dm-w, scan-w, ccdc69-w) and that drives female differentiation. Using gene editing, we found that the sex-determining function of this region requires dm-w but that scan-w and ccdc69-w are not essential for viability, female development, or fertility.

Countermovement jump, handgrip, and balance performance change during euhydration, mild-dehydration, rehydration, and ad libitum drinking.

Objective: To examine the effects of euhydration, mild-dehydration, rehydration, and ad libitum drinking on countermovement jump (CMJ), handgrip strength, and performance of balance error scoring system test (BESS).

Methods: Eighteen healthy male subjects (mean[M]±standard deviation[SD]; age, 23±3y; body mass, 80.1 ± 9.

Electronic Health Records and Genomics: Perspectives from the Association for Molecular Pathology Electronic Health Record (EHR) Interoperability for Clinical Genomics Data Working Group.

The use of genomics in medicine is expanding rapidly, but information systems are lagging in their ability to support genomic workflows both from the laboratory and patient-facing provider perspective. The complexity of genomic data, the lack of needed data standards, and lack of genomic fluency and functionality as well as several other factors have contributed to the gaps between genomic data generation, interoperability, and utilization. These gaps are posing significant challenges to laboratory and pathology professionals, clinicians, and patients in the ability to generate, communicate, consume, and use genomic test results.

A frog with three sex chromosomes that co-mingle together in nature: Xenopus tropicalis has a degenerate W and a Y that evolved from a Z chromosome.

In many species, sexual differentiation is a vital prelude to reproduction, and disruption of this process can have severe fitness effects, including sterility. It is thus interesting that genetic systems governing sexual differentiation vary among-and even within-species. To understand these systems more, we investigated a rare example of a frog with three sex chromosomes: the Western clawed frog, Xenopus tropicalis.

FXR1 splicing is important for muscle development and biomolecular condensates in muscle cells.

Fragile-X mental retardation autosomal homologue-1 (FXR1) is a muscle-enriched RNA-binding protein. FXR1 depletion is perinatally lethal in mice, Xenopus, and zebrafish; however, the mechanisms driving these phenotypes remain unclear. The FXR1 gene undergoes alternative splicing, producing multiple protein isoforms and mis-splicing has been implicated in disease.