HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor.
HmtDB 2016: data update, a better performing query system and human mitochondrial DNA haplogroup predictor.
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DOI：
10.1093/nar/gkw1066
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发表时间：
2017-01-04
影响因子：
14.9
通讯作者：
Attimonelli M
中科院分区：
文献类型：
--
作者：
Clima R;Preste R;Calabrese C;Diroma MA;Santorsola M;Scioscia G;Simone D;Shen L;Gasparre G;Attimonelli M
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/.
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来自1,092个人基因组的遗传变异的综合图。
影响因子：
64.8
作者：
通讯作者：
--
影响因子：
5.3
作者：
Santorsola M;Calabrese C;Girolimetti G;Diroma MA;Gasparre G;Attimonelli M
通讯作者：
Attimonelli M
影响因子：
3
作者：
Attimonelli, M;Accetturo, M;Tommaseo-Ponzetta, M
通讯作者：
Tommaseo-Ponzetta, M
影响因子：
3.8
作者：
Falk MJ;Shen L;Gonzalez M;Leipzig J;Lott MT;Stassen AP;Diroma MA;Navarro-Gomez D;Yeske P;Bai R;Boles RG;Brilhante V;Ralph D;DaRe JT;Shelton R;Terry SF;Zhang Z;Copeland WC;van Oven M;Prokisch H;Wallace DC;Attimonelli M;Krotoski D;Zuchner S;Gai X;MSeqDR Consortium Participants;MSeqDR Consortium participants: Sherri Bale, Jirair Bedoyan, Doron Behar, Penelope Bonnen, Lisa Brooks, Claudia Calabrese, Sarah Calvo, Patrick Chinnery, John Christodoulou, Deanna Church,;Rosanna Clima, Bruce H. Cohen, Richard G. Cotton, IFM de Coo, Olga Derbenevoa, Johan T. den Dunnen, David Dimmock, Gregory Enns, Giuseppe Gasparre,;Amy Goldstein, Iris Gonzalez, Katrina Gwinn, Sihoun Hahn, Richard H. Haas, Hakon Hakonarson, Michio Hirano, Douglas Kerr, Dong Li, Maria Lvova, Finley Macrae, Donna Maglott, Elizabeth McCormick, Grant Mitchell, Vamsi K. Mootha, Yasushi Okazaki,;Aurora Pujol, Melissa Parisi, Juan Carlos Perin, Eric A. Pierce, Vincent Procaccio, Shamima Rahman, Honey Reddi, Heidi Rehm, Erin Riggs, Richard Rodenburg, Yaffa Rubinstein, Russell Saneto, Mariangela Santorsola, Curt Scharfe,;Claire Sheldon, Eric A. Shoubridge, Domenico Simone, Bert Smeets, Jan A. Smeitink, Christine Stanley, Anu Suomalainen, Mark Tarnopolsky, Isabelle Thiffault, David R. Thorburn, Johan Van Hove, Lynne Wolfe, and Lee-Jun Wong
通讯作者：
Claire Sheldon, Eric A. Shoubridge, Domenico Simone, Bert Smeets, Jan A. Smeitink, Christine Stanley, Anu Suomalainen, Mark Tarnopolsky, Isabelle Thiffault, David R. Thorburn, Johan Van Hove, Lynne Wolfe, and Lee-Jun Wong
影响因子：
14.9
作者：
Rubino F;Piredda R;Calabrese FM;Simone D;Lang M;Calabrese C;Petruzzella V;Tommaseo-Ponzetta M;Gasparre G;Attimonelli M
通讯作者：
Attimonelli M