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Search Results to Emily G. Farrow

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Farrow, Emily

One or more keywords matched the following items that are connected to Farrow, Emily

Item Type	Name
Concept	Genome, Human
Concept	Genome
Concept	Genome, Mitochondrial
Concept	Genome-Wide Association Study
Academic Article	Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.
Academic Article	Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.
Academic Article	A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.
Academic Article	Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.
Academic Article	Erratum: Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences.
Academic Article	The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants.
Academic Article	Clinical genome sequencing in an unbiased pediatric cohort.
Academic Article	Next-generation community genetics for low- and middle-income countries.
Academic Article	Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome.
Academic Article	Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.
Academic Article	Clinical detection of deletion structural variants in whole-genome sequences.
Academic Article	Whole exome sequencing reveals HSPA1L as a genetic risk factor for spontaneous preterm birth.
Academic Article	Pathogenic variants in KPTN gene identified by clinical whole-genome sequencing.
Academic Article	Factors Affecting Migration to GRCh38 in Laboratories Performing Clinical Next-Generation Sequencing.
Academic Article	Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Academic Article	Clinical Validation of Genome Reference Consortium Human Build 38 in a Laboratory Utilizing Next-Generation Sequencing Technologies.
Academic Article	Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.
Academic Article	Case of CLPB deficiency solved by HiFi long read genome sequencing and RNAseq.
Academic Article	Characterization and visualization of tandem repeats at genome scale.

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Genome