CATCHing putative causative variants in consanguineous families

BMC Bioinformatics

Volumn 16, Issue 1, 2015, Pages

  Santoni, Federico Andrea ^a,b   Makrythanasis, Periklis ^a,b   Antonarakis, Stylianos E ^a,b,c  

^a UNIVERSITY OF GENEVA   (Switzerland)

^b GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^c Institute of Genetics and Genomics of Geneva (iGE3)   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

DIAGNOSIS; GENES; MOLECULAR BIOLOGY;

FAMILY STRUCTURE; HEARING IMPAIRMENTS; HIGH-THROUGHPUT SEQUENCING; MOLECULAR DIAGNOSIS; OPTIMAL DETECTION; RECESSIVE DISORDER; SKELETAL DEFORMITIES; THROMBOCYTOPENIA;

AUDITION;

FGFR3 PROTEIN, HUMAN; FIBROBLAST GROWTH FACTOR RECEPTOR 3;

ALGORITHM; COMPUTER INTERFACE; CONSANGUINITY; DNA SEQUENCE; GENETICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; HOMOZYGOTE; HUMAN; INTERNET; MUSCULOSKELETAL DISEASE; PATHOLOGY; PEDIGREE; PHENOTYPE; SINGLE NUCLEOTIDE POLYMORPHISM;

ALGORITHMS; CONSANGUINITY; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HOMOZYGOTE; HUMANS; INTERNET; MUSCULOSKELETAL DISEASES; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; SEQUENCE ANALYSIS, DNA; USER-COMPUTER INTERFACE;

EID: 84942509146     PISSN: None     EISSN: 14712105     Source Type: Journal    
DOI: 10.1186/s12859-015-0727-5     Document Type: Article

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