MToolBox: a highly automated pipeline for heteroplasmy annotation and prioritization analysis of human mitochondrial variants in high-throughput sequencing

Autor: Domenico Simone, Ernesto Picardi, M Attimonelli, Cristiano Guttà, Mariangela Santorsola, Maria Angela Diroma, Claudia Calabrese, Graziano Pesole, Giuseppe Gasparre

Publikováno v: Bioinformatics

Motivation: The increasing availability of mitochondria-targeted and off-target sequencing data in whole-exome and whole-genome sequencing studies (WXS and WGS) has risen the demand of effective pipelines to accurately measure heteroplasmy and to eas

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::791e088e4989035fd3dd5835b65143b6
https://doi.org/10.1093/bioinformatics/btu483

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Updata of the Human MitBASE database

Autor: M. Attimonelli 1, J. M. Cooper2, D. D'Elia3, A. de Montalvo4, M. De Robertis5, H. Lehväslaiho6, S. B. Malladi6, F.Memeo1, K. Stevens2, 7, A. H. V. Schapira2, C. Saccone1

Publikováno v: Nucleic acids research (Online) 27 (1999): 143–146. doi:10.1093/nar/27.1.143
info:cnr-pdr/source/autori:M. Attimonelli 1,*, J. M. Cooper2,D. D'Elia3, A. de Montalvo4, M. De Robertis5, H. Lehväslaiho6,S. B. Malladi6, F.Memeo1, K. Stevens2,7, A. H. V. Schapira2,7 and C. Saccone1/titolo:Updata of the Human MitBASE database/doi:10.1093%2Fnar%2F27.1.143/rivista:Nucleic acids research (Online)/anno:1999/pagina_da:143/pagina_a:146/intervallo_pagine:143–146/volume:27

Human MitBASE is a database collecting human mtDNA variants. This database is part of a greater mitochondrial genome database (MitBASE) funded within the EU Biotech Program. The present paper reports the recent improvements in data structure, data qu

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::edcea5a13c853a8a2e98026513013079
https://publications.cnr.it/doc/254370

Reorganization and merging of the EMBL and GenBank keyword indexes in a tree structure for more efficient retrieval of nucleic acid sequences

Autor: A, Tullo, S, Liuni, M, Attimonelli

Publikováno v: Protein sequencesdata analysis. 3(4)

EMBL and GenBank keyword indexes have no hierarchical structure. In this paper we present a method for merging and reorganizing them in a tree structure whose primary roots are the keywords 'protein', 'DNA', 'RNA', and 'unclassified'. Synonymous keyw

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d4b0097b25c4dda4838e8dff0b20df72
https://pubmed.ncbi.nlm.nih.gov/2235975

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