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How Genomic Variants Could Help Diagnose Rare Genetic Disorders

A genotype-first approach to patient care involves selecting patients with specific genomic variants and then studying their traits and symptoms. ....

United States , Caralynn Wilczewski , National Human Genome Research Institute , American Journal , Reverse Phenotyping Core , Genetic Disorders , Enomic Variant ,

New approach puts genotype first

Researchers have assessed 13 studies that took a genotype-first approach to patient care, in contrast to the more typical phenotype-first approach. ....

United States , Elissa Wolfson , Leslie Biesecker , National Institute Of Allergy , Precision Health Research , Science Advisory Board , American Journal , Human Genetics , National Human Genome Research Institute , Reverse Phenotyping Core , Precision Health , National Institute , Infectious Disease , Centralized Sequencing Protocol , Reverse Phenotyping Core Genomic Data , Genomic Medicine , Henotype First , Reverse Phenotyping , Henotype First , Genomic Variants , Genetic Disorders , Genomic Data , Genome Sequencing , Linseqr , National Institute Of Allergy And Infectious Disease , Centralized Sequencing Protocol ,

'Genetic Disorders Traced to Genomic Variants with New Method'

'Genetic Disorders Traced to Genomic Variants with New Method'
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United States , Leslie Biesecker , Clesson Turner , Caralynn Wilczewski , National Institute Of Allergy , National Institutes Of Health , National Human Genome Research Institute , Precision Health Research , National Institutes , American Journal , Reverse Phenotyping Core , Phenotyping Core , Precision Health , National Institute , Infectious Disease , Centralized Sequencing Protocol , Reverse Phenotyping Core Genomic Data Browser ,

Genotype-first approach uncovers new relationships between genes and clinical conditions

National Institutes of Health researchers have published an assessment of 13 studies that took a genotype-first approach to patient care. ....

United States , Leslie Biesecker , Clesson Turner , Caralynn Wilczewski , Emily Henderson , National Institute Of Allergy , National Institutes Of Health , National Human Genome Research Institute , Precision Health Research , American Journal , Reverse Phenotyping Core , Genomics Industry Focus , Phenotyping Core , Precision Health , National Institute , Infectious Disease , Centralized Sequencing Protocol , Reverse Phenotyping Core Genomic Data Browser ,