Solving the molecular diagnostic testing conundrum for Mendelian disorders in the era of next-generation sequencing: Single-gene, gene panel, or exome/genome sequencing

Genetics in Medicine

Volumn 17, Issue 6, 2015, Pages 444-451

  Xue, Yuan ^a   Ankala, Arunkanth ^a   Wilcox, William R ^a   Hegde, Madhuri R ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 3;

ACHONDROPLASIA; ALGORITHM; BIOINFORMATICS; CLINICAL FEATURE; CLINICAL LABORATORY; DIAGNOSTIC VALUE; EXOME SEQUENCING; GENE LOCUS; GENE MUTATION; GENE PANEL TESTING; GENETIC ASSOCIATION; GENETIC DISORDER; GENETIC SCREENING; HUMAN; INTERMETHOD COMPARISON; KARYOTYPING; MENDELIAN DISORDER; MOLECULAR DIAGNOSIS; NEWBORN INTENSIVE CARE; NEXT GENERATION SEQUENCING; PHENOTYPE; REVIEW; SINGLE GENE TESTING; EXOME; GENE; GENOMICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; PROCEDURES; STANDARDS;

ALGORITHMS; EXOME; GENES; GENOME, HUMAN; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MOLECULAR DIAGNOSTIC TECHNIQUES;

EID: 84930351608     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2014.122     Document Type: Review

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