Paper Info
Title
HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor.
Abstract
The HmtDB resource hosts a database of human mitochondrial genome sequences from individuals with healthy and disease phenotypes. The database is intended to support both population geneticists as well as clinicians undertaking the task to assess the pathogenicity of specific mtDNA mutations. The wide application of next-generation sequencing (NGS) has provided an enormous volume of high-resolution data at a low price, increasing the availability of human mitochondrial sequencing data, which called for a cogent and significant expansion of HmtDB data content that has more than tripled in the current release. We here describe additional novel features, including: (i) a complete, user-friendly restyling of the web interface, (ii) links to the command-line stand-alone and web versions of the MToolBox package, an up-to-date tool to reconstruct and analyze human mitochondrial DNA from NGS data and (iii) the implementation of the Reconstructed Sapiens Reference Sequence (RSRS) as mitochondrial reference sequence. The overall update renders HmtDB an even more handy and useful resource as it enables a more rapid data access, processing and analysis. HmtDB is accessible at http://www.hmtdb.uniba.it/.
Year
DOI
Venue
2017
10.1093/nar/gkw1066
NUCLEIC ACIDS RESEARCH
Field
DocType
Volume
Genome,Population,Disease,Biology,Haplogroup,Haplotype,Genomics,Mitochondrial DNA,Genetics,Human mitochondrial genetics
Journal
45
Issue
ISSN
Citations 
D1
0305-1048
1
PageRank 
References 
Authors
0.40
4
10
Name
Order
Citations
PageRank
Rosanna Clima110.73
Roberto Preste210.73
Claudia Calabrese3152.68
Maria Angela Diroma492.40
Mariangela Santorsola581.36
Gaetano Scioscia6683.65
Domenico Simone710.40
Lishuang Shen810.40
Giuseppe Gasparre9142.67
Marcella Attimonelli1016252.64