MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease-Reference-Cited by-同舟云学术

MSeqDR: A Centralized Knowledge Repository and Bioinformatics Web Resource to Facilitate Genomic Investigations in Mitochondrial Disease

Published:2016-03-21 Issue:6 Volume:37 Page:540-548
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Shen Lishuang¹²,Diroma Maria Angela³⁴,Gonzalez Michael⁵⁶,Navarro-Gomez Daniel²,Leipzig Jeremy⁷,Lott Marie T.⁸,van Oven Mannis⁹,Wallace Douglas C.⁸¹⁰,Muraresku Colleen Clarke¹¹,Zolkipli-Cunningham Zarazuela¹²,Chinnery Patrick F.¹³,Attimonelli Marcella³,Zuchner Stephan⁵⁶,Falk Marni J.¹¹¹⁴,Gai Xiaowu¹²

Affiliation:

1. Center for Personalized Medicine; Children's Hospital Los Angeles; Los Angeles California

2. Massachusetts Eye and Ear Infirmary; Harvard Medical School; Boston Massachusetts

3. Department of Biosciences, Biotechnologies and Biopharmaceutics; University of Bari; Bari Italy

4. CEINGE-Biotecnologie Avanzate; Napoli Italy

5. Dr. John T. Macdonald Foundation Department of Human Genetics; University of Miami Miller School of Medicine; Miami Florida

6. The Genesis Project; Miami Florida

7. Center for Biomedical Informatics; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

8. Center for Mitochondrial and Epigenomic Medicine; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

9. Department of Forensic Molecular Biology; Erasmus MC-University Medical Center Rotterdam; The Netherlands

10. Department of Pathology; The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine; Philadelphia Pennsylvania

11. Division of Human Genetics; Department of Pediatrics; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

12. Division of Neurology, Department of Pediatrics; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

13. Department of Clinical Neurosciences, Cambridge Biomedical Campus; University of Cambridge; Cambridge United Kingdom

14. Department of Pediatrics; University of Pennsylvania Perelman School of Medicine; Philadelphia Pennsylvania

Funder

United Mitochondrial Disease Foundation

National Institutes of Health

Netherlands Genomic Initiative (NGI)

Netherlands Organization for Scientific Research (NWO)

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.22974/fullpdf

Reference38 articles.

1. An integrated map of genetic variation from 1,092 human genomes;Abecasis;Nature,2012

2. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

3. A “Copernican” reassessment of the human mitochondrial DNA tree from its root;Behar;Am J Hum Genet,2012

4. MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing;Calabrese;Bioinformatics,2014

5. Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing;Consugar;Genet Med,2015

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