Reference population databases are an essential tool in variant and gene interpretation.
Their use guides the identification of pathogenic variants amidst the sea of benign variation …

Monogenic diabetes refers to diabetes mellitus (DM) caused by a mutation in a single gene
and accounts for approximately 1%–5% of diabetes. Correct diagnosis is clinically critical for …

Summary The American College of Medical Genetics and Genomics (ACMG)/Association for
Molecular Pathology (AMP) framework for classifying variants uses six evidence categories …

Splice-switching antisense oligonucleotides (ASOs) could be used to treat a subset of
individuals with genetic diseases, but the systematic identification of such individuals …

Abstract Background The American College of Medical Genetics and Genomics
(ACMG)/Association for Molecular Pathology (AMP) clinical variant interpretation guidelines …

Genomic studies of pediatric cancer have primarily focused on specific tumor types or high-
risk disease. Here, we used a three-platform sequencing approach, including whole …

Background The majority of clinical genetic testing focuses almost exclusively on regions of
the genome that directly encode proteins. The important role of variants in non-coding …

Recent studies on pediatric acute myeloid leukemia (pAML) have revealed pediatric-specific
driver alterations, many of which are underrepresented in the current classification schemas …

Purpose Several professional societies have published guidelines for the clinical
interpretation of somatic variants, which specifically address diagnostic, prognostic, and …

There is a growing need for systems that efficiently support the work of medical teams at the
precision-oncology point of care. Here, we present the implementation of the Molecular …