Next-generation diagnostics and disease-gene discovery with the Exomiser

Nature Protocols

Volumn 10, Issue 12, 2015, Pages 2004-2015

  Smedley, Damian ^a   Jacobsen, Julius O B ^a   Jäger, Marten ^b   Köhler, Sebastian ^b   Holtgrewe, Manuel ^b,c   Schubach, Max ^b   Siragusa, Enrico ^b,c,d   Zemojtel, Tomasz ^b,e   Buske, Orion J ^f,g   Washington, Nicole L ^h   Bone, William P ⁱ   Haendel, Melissa A ^j   Robinson, Peter N ^b,d,k  

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^c BERLIN INSTITUTE OF HEALTH   (Germany)

^d MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^e INSTITUTE OF BIOORGANIC CHEMISTRY   (Poland)

^f UNIVERSITY OF TORONTO   (Canada)

^g HOSPITAL FOR SICK CHILDREN   (Canada)

^h LAWRENCE BERKELEY NATIONAL LABORATORY   (United States)

ⁱ NATIONAL INSTITUTES OF HEALTH   (United States)

^j OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^k FREIE UNIVERSITÄT BERLIN   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALGORITHM; ARTICLE; COMPUTER PROGRAM; DIGITAL FILTERING; EXOME; GENE IDENTIFICATION; GENETIC ASSOCIATION; HUMAN; NEXT GENERATION SEQUENCING; NONHUMAN; PATHOGENICITY; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; DNA SEQUENCE; GENETIC SCREENING; HIGH THROUGHPUT SEQUENCING; PROCEDURES;

EXOME; GENETIC TESTING; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; SEQUENCE ANALYSIS, DNA; SOFTWARE;

EID: 84947907035     PISSN: 17542189     EISSN: 17502799     Source Type: Journal    
DOI: 10.1038/nprot.2015.124     Document Type: Article

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