Eric Blincow
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View article: Genome x Environment analysis of Sudden Unexpected Infant Death unveils etiologic heterogeneity and strong cannabis and genetic disease risks
Genome x Environment analysis of Sudden Unexpected Infant Death unveils etiologic heterogeneity and strong cannabis and genetic disease risks Open
Sudden Unexpected Infant Death (SUID), the third leading cause of infant death, has increasing incidence and multifactorial etiology. Identification of preventative interventions has hitherto been hindered by etiologic studies limited to g…
View article: P146: BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders*
P146: BeginNGS, an artificial intelligence-enabled genome sequencing system for newborn screening of 409 childhood genetic disorders* Open
Newborn screening (NBS) dramatically improves outcomes in selected, severe, childhood disorders by identification and treatment at or before symptom onset. We are developing a highly scalable precision medicine delivery platform for all tr…
View article: A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases Open
Newborn screening (NBS) dramatically improves outcomes in severe childhood disorders by treatment before symptom onset. In many genetic diseases, however, outcomes remain poor because NBS has lagged behind drug development. Rapid whole-gen…