Nature Communications (Jan 2021)
AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data
- Mathieu Quinodoz,
- Virginie G. Peter,
- Nicola Bedoni,
- Béryl Royer Bertrand,
- Katarina Cisarova,
- Arash Salmaninejad,
- Neda Sepahi,
- Raquel Rodrigues,
- Mehran Piran,
- Majid Mojarrad,
- Alireza Pasdar,
- Ali Ghanbari Asad,
- Ana Berta Sousa,
- Luisa Coutinho Santos,
- Andrea Superti-Furga,
- Carlo Rivolta
Affiliations
- Mathieu Quinodoz
- Institute of Molecular and Clinical Ophthalmology Basel (IOB)
- Virginie G. Peter
- Institute of Molecular and Clinical Ophthalmology Basel (IOB)
- Nicola Bedoni
- Service of Medical Genetics, Lausanne University Hospital (CHUV)
- Béryl Royer Bertrand
- Service of Medical Genetics, Lausanne University Hospital (CHUV)
- Katarina Cisarova
- Service of Medical Genetics, Lausanne University Hospital (CHUV)
- Arash Salmaninejad
- Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences
- Neda Sepahi
- Noncommunicable Diseases Research Center, Fasa University of Sciences
- Raquel Rodrigues
- Department of Medical Genetics, Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte (CHULN), Lisbon Academic Medical Center (CAML)
- Mehran Piran
- Noncommunicable Diseases Research Center, Fasa University of Sciences
- Majid Mojarrad
- Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences
- Alireza Pasdar
- Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences
- Ali Ghanbari Asad
- Noncommunicable Diseases Research Center, Fasa University of Sciences
- Ana Berta Sousa
- Department of Medical Genetics, Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte (CHULN), Lisbon Academic Medical Center (CAML)
- Luisa Coutinho Santos
- Instituto de Oftalmologia Dr Gama Pinto
- Andrea Superti-Furga
- Service of Medical Genetics, Lausanne University Hospital (CHUV)
- Carlo Rivolta
- Institute of Molecular and Clinical Ophthalmology Basel (IOB)
- DOI
- https://doi.org/10.1038/s41467-020-20584-4
- Journal volume & issue
-
Vol. 12,
no. 1
pp. 1 – 7
Abstract
Homozygosity mapping is a useful tool for identifying candidate mutations in recessive conditions, however application to next generation sequencing data has been sub-optimal. Here, the authors present AutoMap, which efficiently identifies runs of homozygosity in whole exome/genome sequencing data.
