9 Result(s)

Article

Scalable, high quality, whole genome sequencing from archived, newborn, dried blood spots

Universal newborn screening (NBS) is a highly successful public health intervention. Archived dried bloodspots (DBS) collected for NBS represent a rich resource for population genomic studies. To fully harness...

Yan Ding, Mallory Owen, Jennie Le, Sergey Batalov, Kevin Chau… in npj Genomic Medicine (2023)

Article

Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases

Clinical interpretation of genetic variants in the context of the patient’s phenotype is becoming the largest component of cost and time expenditure for genome-based diagnosis of rare genetic diseases. Artific...

Francisco M. De La Vega, Shimul Chowdhury, Barry Moore, Erwin Frise… in Genome Medicine (2021)

Article

Publisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

Nathaly M. Sweeney, Shareef A. Nahas, Shimul Chowdhury… in npj Genomic Medicine (2021)

Article

Author Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

Nathaly M. Sweeney, Shareef A. Nahas, Shimul Chowdhury… in npj Genomic Medicine (2021)

Article

Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease

Congenital heart disease (CHD) is the most common congenital anomaly and a major cause of infant morbidity and mortality. While morbidity and mortality are highest in infants with underlying genetic conditions...

Nathaly M. Sweeney, Shareef A. Nahas, Shimul Chowdhury… in npj Genomic Medicine (2021)

Article

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses

To investigate the diagnostic and clinical utility of a partially automated reanalysis pipeline, forty-eight cases of seriously ill children with suspected genetic disease who did not receive a diagnosis upon ...

Kiely N. James, Michelle M. Clark, Brandon Camp, Cyrielle Kint… in npj Genomic Medicine (2020)

Article

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization

Genetic disorders are a leading cause of morbidity and mortality in infants. Rapid whole-genome sequencing (rWGS) can diagnose genetic disorders in time to change acute medical or surgical management (clinical...

Lauge Farnaes, Amber Hildreth, Nathaly M. Sweeney… in npj Genomic Medicine (2018)

Article

The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants

Genetic disorders are a leading cause of morbidity and mortality in infants in neonatal and pediatric intensive care units (NICU/PICU). While genomic sequencing is useful for genetic disease diagnosis, results...

Josh E. Petrikin, Julie A. Cakici, Michelle M. Clark… in npj Genomic Medicine (2018)