Leveraging network analytics to infer patient syndrome and identify causal genes in rare disease cases

BMC Genomics

Volumn 18, Issue , 2017, Pages

  Krämer, Andreas ^a   Shah, Sohela ^a   Rebres, Robert Anthony ^a   Tang, Susan ^a   Richards, Daniel Rene ^a  

^a Qiagen Bioinformatics   (United States)

Author keywords

Diagnostic odyssey; Exome sequencing; Genetic disorders; NGS; Rare disease diagnosis; Variant selection; Whole genome sequencing

Indexed keywords

ADAMS OLIVER SYNDROME; ALGORITHM; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; GENOTYPE; HIRSUTISM; HUMAN; INHERITANCE; INTERMETHOD COMPARISON; MENINGOMYELOCELE; NOSE MALFORMATION; PHENOLYZER; PHENOTYPE; PHENOTYPE DRIVEN RANKING; PROMINENT NOSE; RETROGNATHIA; RUBINSTEIN SYNDROME; SOLITARY KIDNEY; DNA MUTATIONAL ANALYSIS; GENETICS; GENOMICS; HIGH THROUGHPUT SEQUENCING; MUTATION; PROCEDURES; RARE DISEASE; SOFTWARE;

ALGORITHMS; DNA MUTATIONAL ANALYSIS; GENOMICS; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MUTATION; RARE DISEASES; SOFTWARE;

EID: 85041287168     PISSN: None     EISSN: 14712164     Source Type: Journal    
DOI: 10.1186/s12864-017-3910-4     Document Type: Article

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