A combination of targeted enrichment methodologies for whole-exome sequencing reveals novel pathogenic mutations

Scientific Reports

Volumn 5, Issue , 2015, Pages

  Miya, Fuyuki ^a   Kato, Mitsuhiro ^b   Shiohama, Tadashi ^c   Okamoto, Nobuhiko ^d   Saitoh, Shinji ^e   Yamasaki, Mami ^f   Shigemizu, Daichi ^a   Abe, Tetsuo ^a   Morizono, Takashi ^a   Boroevich, Keith A ^a   Kosaki, Kenjiro ^g   Kanemura, Yonehiro ^h,i   Tsunoda, Tatsuhiko ^a  

^a Institute of Physical and Chemical Research   (Japan)

^b YAMAGATA UNIVERSITY   (Japan)

^c CHIBA UNIVERSITY   (Japan)

^d RESEARCH INSTITUTE FOR MATERNAL AND CHILD HEALTH   (Japan)

^e NAGOYA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCES   (Japan)

^f Japan   (Japan)

^g KEIO UNIVERSITY   (Japan)

^h OSAKA NATIONAL HOSPITAL   (Japan)

ⁱ NATIONAL HOSPITAL ORGANIZATION   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ASPM PROTEIN, HUMAN; NERVE PROTEIN;

BIOLOGY; BRAIN; EXOME; FEMALE; GENETICS; GENOME-WIDE ASSOCIATION STUDY; GENOMICS; GENOTYPE; HIGH THROUGHPUT SEQUENCING; HUMAN; MALE; MICROCEPHALY; MUTATION; PATHOLOGY; PEDIGREE; PROCEDURES;

BRAIN; COMPUTATIONAL BIOLOGY; EXOME; FEMALE; GENOME-WIDE ASSOCIATION STUDY; GENOMICS; GENOTYPE; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; MALE; MICROCEPHALY; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE;

EID: 84925250471     PISSN: None     EISSN: 20452322     Source Type: Journal    
DOI: 10.1038/srep09331     Document Type: Article

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