The transition from analog to digital technologies in clinical laboratory genomics is ushering
in an era of “big data” in ways that will exceed human capacity to rapidly and reproducibly …

Objectives First, to determine the incremental yield of whole‐genome sequencing (WGS)
over quantitative fluorescence polymerase chain reaction (QF‐PCR)/chromosomal …

Background Diagnosing genetic disorders requires extensive manual curation and
interpretation of candidate variants, a labor-intensive task even for trained geneticists …

Artificial intelligence has lately proven useful in the field of medical genetics. It is already
being used to interpret genome sequences and diagnose patients based on facial …

A significant challenge limiting the comprehensive utilization of genomic medicine is the lack
of timely access to genetics specialists. Although neurologists see patients for whom genetic …

Newborn screening (NBS) in the United States began in the 1960s to detect inborn errors of
metabolism that benefited from presymptomatic treatment compared with treatment after the …

Background Identifying causative variants is crucial for the diagnosis of rare genetic
diseases. Over the past two decades, the application of genome sequencing technologies in …

New technologies in genetic diagnostics have revolutionized the understanding and
management of rare diseases. This review highlights the significant advances and latest …

ABSTRACT The International Rare Diseases Research Consortium (IRDiRC) Diagnostic
Scientific Committee (DSC) is charged with discussion and contribution to progress on …

Introducción Las enfermedades huérfanas (EH) son raras, pero colectivamente comunes,
presentan desafíos como diagnósticos tardíos, progresión de la enfermedad y escasa oferta …