SouthSeq: Genome sequencing for a diverse population of hospitalized infants

Genome sequencing (GS) may shorten the diagnostic odyssey and guide clinical management in infants with suspected genetic disorders. GS detects a variety of genetic variant types (SNVs, indels, CNVs, aneuploidy) and permits phenotype-independent variant assessment, which is important in infants whose clinical presentation may not be well-defined until later in life. In SouthSeq, part of the Clinical Sequencing Evidence-Generating Research Consortium, we evaluated GS as a first-line diagnostic tool for infants with suspected but undiagnosed genetic disorders.