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Paper Details

Next-generation diagnostics and disease-gene discovery with the Exomiser.
Nat Protoc
220
2015
Exomiser, Mendelian disease, exome sequences, exomiser
Exome, Genetic Testing, High-Throughput Nucleotide Sequencing, Humans, Sequence Analysis, DNA, Software
Author NameAffiliation
Damian SmedleyWellcome Trust Sanger Institute
Julius O B JacobsenWellcome Trust Sanger Institute
Marten J??gerInstitute for Medical and Human Genetics, Charite-Universitatsmedizin Berlin
Marten J??gerBerlin Brandenburg Center for Regenerative Therapies (BCRT), Charite-Universitatsmedizin Berlin
Sebastian K??hlerInstitute for Medical and Human Genetics, Charite-Universitatsmedizin Berlin
Sebastian K??hlerInstitute for Medical and Human Genetics, Charite-Universitatsmedizin Berlin
Manuel HoltgreweInstitute for Medical and Human Genetics, Charite-Universitatsmedizin Berlin
Manuel HoltgreweBerlin Institute for Health
Max SchubachInstitute for Medical and Human Genetics, Charite-Universitatsmedizin Berlin
Enrico SiragusaInstitute for Medical and Human Genetics, Charite-Universitatsmedizin Berlin
Enrico SiragusaBerlin Institute for Health
Enrico SiragusaMax Planck Institute for Molecular Genetics
Tomasz ZemojtelInstitute for Medical and Human Genetics, Charite-Universitatsmedizin Berlin
Tomasz ZemojtelInstitute of Bioorganic Chemistry, Polish Academy of Sciences
Tomasz Zemojtel
Orion J BuskeUniversity of Toronto
Orion J BuskeThe Hospital for Sick Children
Orion J BuskeUniversity of Toronto
Orion J BuskeThe Hospital for Sick Children
Nicole L WashingtonLawrence Berkeley National Laboratory
Nicole L WashingtonLawrence Berkeley National Laboratory
William P BoneThe National Institutes of Health (NIH) Undiagnosed Diseases Program
Melissa A HaendelDepartment of Medical Informatics and Clinical Epidemiology, Oregon Health &Science University
Melissa A HaendelDepartment of Medical Informatics and Clinical Epidemiology, Oregon Health &Science University
Peter N RobinsonInstitute for Medical and Human Genetics, Charite-Universitatsmedizin Berlin
Peter N RobinsonBerlin Brandenburg Center for Regenerative Therapies (BCRT), Charite-Universitatsmedizin Berlin
Peter N RobinsonMax Planck Institute for Molecular Genetics
Peter N RobinsonInstitute for Bioinformatics, Freie Universitat Berlin
Peter N RobinsonInstitute for Medical and Human Genetics, Charite-Universitatsmedizin Berlin
Peter N RobinsonBerlin Brandenburg Center for Regenerative Therapies (BCRT), Charite-Universitatsmedizin Berlin
Peter N RobinsonMax Planck Institute for Molecular Genetics
Peter N RobinsonInstitute for Bioinformatics, Freie Universitat Berlin
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