pediatric disease
Mutational Signatures Profiled in Pediatric Cancers
Researchers uncovered and analyzed mutational signatures in 27 cancer types or subtypes by analyzing genome sequences for nearly 800 tumors.
Cochlear Implant Outcomes Linked to Type of Genetic Diagnosis for Childhood Hearing Loss
Data from more than 400 families affected by childhood-onset hearing loss indicated that specific genes and variants can provide prognostic clues, including success of cochlear implants.
Pediatric Patients Face Barriers Receiving Exome Sequencing From Insurance, Scheduling Delays
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A recent analysis found that it can take between five days and more than a year from when testing is first considered to sample collection.
Early-Onset Psychosis Linked to Enhanced CNV Burden
Researchers profiled CNVs in early-onset psychosis cases, uncovering a rise in copy number variants, including variants previously linked to other conditions.
Multisystem Inflammatory Syndrome in Children Linked to Rare, Immune-Related Variants
With exome sequences and clinical data for dozens of Middle Eastern or Asian children, researchers unearthed rare MIS-C-associated variants in immune and other pathways.