Semantic Scholar Open Access 2006 623 sitasi

An enhanced MITOMAP with a global mtDNA mutational phylogeny

E. Ruiz‐Pesini M. Lott V. Procaccio J. Poole Marty C. Brandon +5 lainnya

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Abstrak

The MITOMAP () data system for the human mitochondrial genome has been greatly enhanced by the addition of a navigable mutational mitochondrial DNA (mtDNA) phylogenetic tree of ∼3000 mtDNA coding region sequences plus expanded pathogenic mutation tables and a nuclear-mtDNA pseudogene (NUMT) data base. The phylogeny reconstructs the entire mutational history of the human mtDNA, thus defining the mtDNA haplogroups and differentiating ancient from recent mtDNA mutations. Pathogenic mutations are classified by both genotype and phenotype, and the NUMT sequences permits detection of spurious inclusion of pseudogene variants during mutation analysis. These additions position MITOMAP for the implementation of our automated mtDNA sequence analysis system, Mitomaster.

Topik & Kata Kunci

Computer Science Medicine Biology

Penulis (10)

E. Ruiz‐Pesini

M. Lott

V. Procaccio

J. Poole

Marty C. Brandon

D. Mishmar

Christina Yi

James Kreuziger

P. Baldi

D. Wallace

Format Sitasi

APA MLA BibTeX

Ruiz‐Pesini, E., Lott, M., Procaccio, V., Poole, J., Brandon, M.C., Mishmar, D. et al. (2006). An enhanced MITOMAP with a global mtDNA mutational phylogeny. https://doi.org/10.1093/nar/gkl927

Akses Cepat

Lihat di Sumber doi.org/10.1093/nar/gkl927

Informasi Jurnal

Tahun Terbit: 2006
Bahasa: en
Total Sitasi: 623×
Sumber Database: Semantic Scholar
DOI: 10.1093/nar/gkl927
Akses: Open Access ✓