Sensitive and specific detection of mosaic chromosomal abnormalities using the Parent-of-Origin-based Detection (POD) method

BMC Genomics

Volumn 14, Issue 1, 2013, Pages

  Baugher, Joseph D ^a   Baugher, Benjamin D ^b   Shirley, Matthew D ^a   Pevsner, Jonathan ^a,c  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS UNIVERSITY APPLIED PHYSICS LABORATORY   (United States)

^c KENNEDY KRIEGER INSTITUTE   (United States)

Author keywords

Autism; Cleft; HapMap; Microarray; Mosaicism; Parent child; Parent of origin; Software; Trio

Indexed keywords

ALLELE; ARTICLE; AUTISM; CHROMOSOME MOSAICISM; COMPUTER PROGRAM; DIAGNOSTIC VALUE; DISEASE SEVERITY; GENE FREQUENCY; GENETIC ALGORITHM; GENETIC ANALYSIS; HUMAN; INTERMETHOD COMPARISON; MICROARRAY ANALYSIS; MICROCHIP ANALYSIS; NUCLEOTIDE SEQUENCE; PARENT OF ORIGIN BASED DETECTION METHOD; PROCESS DEVELOPMENT; SENSITIVITY AND SPECIFICITY; SINGLE NUCLEOTIDE POLYMORPHISM; SOMATIC MUTATION;

ALGORITHMS; CHROMOSOME ABERRATIONS; COMPUTATIONAL BIOLOGY; INTERNET; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; POLYMORPHISM, SINGLE NUCLEOTIDE; SOFTWARE;

EID: 84878344765     PISSN: None     EISSN: 14712164     Source Type: Journal    
DOI: 10.1186/1471-2164-14-367     Document Type: Article

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