Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

PLoS ONE

Volumn 7, Issue 12, 2012, Pages

  Knies, Kerstin ^a   Schuster, Beatrice ^a   Ameziane, Najim ^b   Rooimans, Martin ^b   Bettecken, Thomas ^c   de Winter, Johan ^b   Schindler, Detlev ^a  

^a UNIVERSITY OF WÜRZBURG   (Germany)

^b VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^c MAX PLANCK INSTITUTE OF PSYCHIATRY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA;

ARTICLE; BASE PAIRING; CLINICAL ARTICLE; EXOME; FANCJD1 GENE; FANCJD2 GENE; FANCONI ANEMIA; GENE; GENE DUPLICATION; GENOTYPE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MOLECULAR DIAGNOSIS; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; SEQUENCE ANALYSIS; WHOLE EXOME SEQUENCING;

BASE SEQUENCE; CELL CYCLE; EXOME; FANCONI ANEMIA; FANCONI ANEMIA COMPLEMENTATION GROUP D2 PROTEIN; FEMALE; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MUTATION; PEDIGREE; REPRODUCIBILITY OF RESULTS;

EID: 84871455595     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0052648     Document Type: Article

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