Challenges in whole exome sequencing: An example from hereditary deafness

PLoS ONE

Volumn 7, Issue 2, 2012, Pages

  Sirmaci, Asli ^a   Edwards, Yvonne J K ^a   Akay, Hatice ^b   Tekin, Mustafa ^a,c  

^a UNIVERSITY OF MIAMI MILLER SCHOOL OF MEDICINE   (United States)

^b Veni Vidi Hospital   (Turkey)

^c ANKARA UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; CARRIER PROTEIN; GIPC3 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; AUTOZYGOSITY; CHROMOSOME 19; CLINICAL ARTICLE; CONSANGUINEOUS MARRIAGE; CONTROLLED STUDY; GENE; GENE MAPPING; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC VARIABILITY; GENOME SIZE; GIPC3 GENE; HEARING IMPAIRMENT; HEREDITARY DEAFNESS; HOMOZYGOTE; HUMAN; MISSENSE MUTATION; MOLECULAR PATHOLOGY; NUCLEOTIDE SEQUENCE; PERCEPTION DEAFNESS; PHENOTYPE; SEQUENCE ALIGNMENT; SINGLE NUCLEOTIDE POLYMORPHISM; WHOLE EXOME SEQUENCING; ZNF57 GENE; ZYGOSITY; AUDIOMETRY; CHEMICAL STRUCTURE; CHILD; DNA MICROARRAY; DNA SEQUENCE; EXOME; FEMALE; FRAMESHIFT MUTATION; GENETIC DISORDER; GENETICS; HAPLOTYPE; HUMAN CHROMOSOME; MALE; METHODOLOGY; MOLECULAR GENETICS; PEDIGREE; RNA SPLICING;

AUDIOMETRY; BASE SEQUENCE; CARRIER PROTEINS; CHILD; CHROMOSOMES, HUMAN; DEAFNESS; EXOME; FEMALE; FRAMESHIFT MUTATION; GENETIC DISEASES, INBORN; HAPLOTYPES; HUMANS; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 84857405493     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0032000     Document Type: Article

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