Enhanced sensitivity for detection of low-level germline mosaic RB1 mutations in sporadic retinoblastoma cases using deep semiconductor sequencing

Human Mutation

Volumn 35, Issue 3, 2014, Pages 384-391

  Chen, Zhao ^a   Moran, Kimberly ^a   Richards Yutz, Jennifer ^a   Toorens, Erik ^a   Gerhart, Daniel ^a   Ganguly, Tapan ^a   Shields, Carol L ^b   Ganguly, Arupa ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

Mosaic mutation; Next generation sequencing; RB1; Sporadic retinoblastoma

Indexed keywords

DNA; RETINOBLASTOMA BINDING PROTEIN 1;

ARTICLE; CHILD; CLINICAL ARTICLE; DNA ISOLATION; FEMALE; GENE MUTATION; GENETIC COUNSELING; GENOME; HUMAN; INFANT; MALE; MOSAICISM; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINOBLASTOMA; SEMICONDUCTOR;

MOSAIC MUTATION; NEXT-GENERATION SEQUENCING; RB1; SPORADIC RETINOBLASTOMA;

ALLELES; CALIBRATION; CHILD, PRESCHOOL; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; GENE DELETION; GENE DUPLICATION; GENES, RETINOBLASTOMA; GENOTYPE; GERM-LINE MUTATION; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INFANT; INFANT, NEWBORN; MALE; RETINOBLASTOMA; RETINOBLASTOMA PROTEIN; SENSITIVITY AND SPECIFICITY; SEQUENCE ALIGNMENT;

EID: 84893964350     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22488     Document Type: Article

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