Detecting copy-number variations in whole-exome sequencing data using the exome hidden markov model: An 'exome-first' approach

Journal of Human Genetics

Volumn 60, Issue 4, 2015, Pages 175-182

  Miyatake, Satoko ^a   Koshimizu, Eriko ^a   Fujita, Atsushi ^a   Fukai, Ryoko ^a   Imagawa, Eri ^a   Ohba, Chihiro ^a   Kuki, Ichiro ^b   Nukui, Megumi ^b   Araki, Atsushi ^c   Makita, Yoshio ^d   Ogata, Tsutomu ^e   Nakashima, Mitsuko ^a   Tsurusaki, Yoshinori ^a   Miyake, Noriko ^a   Saitsu, Hirotomo ^a   Matsumoto, Naomichi ^a  

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b OSAKA CITY GENERAL HOSPITAL   (Japan)

^c KANSAI MEDICAL UNIVERSITY   (Japan)

^d ASAHIKAWA MEDICAL COLLEGE   (Japan)

^e HAMAMATSU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

METHYL CPG BINDING PROTEIN 2; NSD1 PROTEIN; PROTEIN; UNCLASSIFIED DRUG; NSD1 PROTEIN, HUMAN; NUCLEAR PROTEIN; SIGNAL PEPTIDE;

ARTICLE; CEREBELLUM ATROPHY; CHILD; CHROMOSOME BREAKAGE; CHROMOSOME DELETION; CHROMOSOME DUPLICATION; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; COPY NUMBER VARIATION; EXOME HIDDEN MARKOV MODEL; GENE DELETION; GENE DUPLICATION; GENE LOCUS; GENETIC DISORDER; HIDDEN MARKOV MODEL; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; MICROARRAY ANALYSIS; MUSCLE SPASM; PARENT; SCHOOL CHILD; SEQUENCE ANALYSIS; SOTOS SYNDROME; UNKNOWN OVERGROWTH SYNDROME; WHOLE EXOME SEQUENCING; ALGORITHM; ATROPHY; BIOLOGICAL MODEL; BIOLOGY; BRAIN DISEASE; DNA MICROARRAY; EXOME; FEMALE; GENETICS; GIGANTISM; HIGH THROUGHPUT SEQUENCING; PATHOLOGY; PROBABILITY; PROCEDURES; SENSITIVITY AND SPECIFICITY;

ALGORITHMS; ATROPHY; BRAIN DISEASES; CHROMOSOME BREAKPOINTS; CHROMOSOME DUPLICATION; COMPUTATIONAL BIOLOGY; DNA COPY NUMBER VARIATIONS; EXOME; FEMALE; GIGANTISM; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; INTELLECTUAL DISABILITY; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MARKOV CHAINS; METHYL-CPG-BINDING PROTEIN 2; MODELS, GENETIC; NUCLEAR PROTEINS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; SENSITIVITY AND SPECIFICITY; SEQUENCE DELETION;

EID: 84929089105     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2014.124     Document Type: Article

References (15)

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