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Article
Open AccessScalable, 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...
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Article
Open AccessAn automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases
While many genetic diseases have effective treatments, they frequently progress rapidly to severe morbidity or mortality if those treatments are not implemented immediately. Since front-line physicians frequen...
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Article
Open AccessArtificial 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...
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Open AccessPublisher Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease
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Open AccessAuthor Correction: Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease
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Article
Open AccessRapid 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...
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Article
Open AccessPartially 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 ...
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Article
Open AccessRapid 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...
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Article
Open AccessThe 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...
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Article
Open AccessA hybrid computational strategy to address WGS variant analysis in >5000 samples
The decreasing costs of sequencing are driving the need for cost effective and real time variant calling of whole genome sequencing data. The scale of these projects are far beyond the capacity of typical comp...
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Article
Analysis of loss-of-function variants and 20 risk factor phenotypes in 8,554 individuals identifies loci influencing chronic disease
Eric Boerwinkle and colleagues carried out exome sequencing on 8,554 individuals and tested loss-of-function variants for association with 20 phenotypes related to common chronic diseases. They identified seve...
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Article
Open AccessAssessing structural variation in a personal genome—towards a human reference diploid genome
Characterizing large genomic variants is essential to expanding the research and clinical applications of genome sequencing. While multiple data types and methods are available to detect these structural varia...
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Article
Open AccessLaunching genomics into the cloud: deployment of Mercury, a next generation sequence analysis pipeline
Massively parallel DNA sequencing generates staggering amounts of data. Decreasing cost, increasing throughput, and improved annotation have expanded the diversity of genomics applications in research and clin...
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Article
FUSARIUM-ID v. 1.0: A DNA Sequence Database for Identifying Fusarium
One of the greatest impediments to the study of Fusarium has been the incorrect and confused application of species names to toxigenic and pathogenic isolates, owing in large part to intrinsic limitations of morp...
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FUSARIUM-ID v. 1.0: A DNA sequence database for identifying Fusarium
One of the greatest impediments to the study of Fusarium has been the incorrect and confused application of species names to toxigenic and pathogenic isolates, owing in large part to intrinsic limitations of morp...