Results 1 to 10 of about 224,762 (156)

MoBiDiC Prioritization Algorithm, a Free, Accessible, and Efficient Pipeline for Single-Nucleotide Variant Annotation and Prioritization for Next-Generation Sequencing Routine Molecular Diagnosis [PDF]

The Journal of Molecular Diagnostics, 2018
Interpretation of next-generation sequencing constitutes the main limitation of molecular diagnostics. In diagnosing myopathies and muscular dystrophies, another issue is efficiency in predicting the pathogenicity of variants identified in large genes, especially TTN; current in silico prediction tools show limitations in predicting and ranking the ...
Kevin Yauy, David Baux, Henri Pegeot, Charles Van Goethem, Charly Mathieu, Thomas Guignard, Raul Juntas Morales, Delphine Lacourt, Martin Krahn, Vilma-Lotta Lehtokari, Gisele Bonne, Sylvie Tuffery-Giraud, Michel Koenig, Mireille Cossée   +13 more
openaire   +4 more sources

Computational identification of protein-coding sequences by comparative analysis [PDF]

International Journal of Data Mining and Bioinformatics, 2007
Gene prediction is an essential step in understanding the genome of a species once it has been sequenced. For that, a promising direction in current research on gene finding is a comparative genomics approach. In this paper, we present a novel approach to identifying evolutionarily conserved protein-coding sequences in genomes.
Wu, Feihong, Towfic, Fadi, Dobbs, Drena, Honavar, Vasant   +3 more
openaire   +20 more sources

Phylobook: a tool for display, clade annotation and extraction of sequences from molecular phylogenies

BioTechniques
As the volume of sequence data from variable pathogens increases, means of analyzing, annotating and extracting specific taxa for study becomes more difficult. To meet these challenges for datasets with hundreds to thousands of taxa, 'Phylobook' was developed.
Jeffrey C Furlong, Peter D Darley, Wenjie Deng, James I Mullins, Roger E Bumgarner   +4 more
openaire   +3 more sources

Improving auditing and annotation of DNA barcode reference libraries of animal COI sequences for Molecular Ecology applications

, 2020
The uncovering and description of Earth’s biodiversity constitute an ongoing and incomplete chapter of the scientific endeavour. Fortunately, biodiversity studies have been greatly benefiting from molecular tools, such as DNA (meta)barcoding, which provide efficient identification tools for biomonitoring and conservation programmes.
openaire   +1 more source

ERBB2 transcriptome: From biology to genomics to biology [PDF]

Journal of Molecular and Genetic Medicine, 2017
er Gabel HajkGeorg Drost Ottoline Leyser Ivo Grosse, Christoph Schuster Alex, Elliot M Meyerowitz   +2 more
openaire   +11 more sources

Chromosome-level genome assembly of the doctor fish (Garra rufa). [PDF]

Sci Data
Kon T, Kon-Nanjo K, Handayani KS, Zang L, Fahrurrozi F, Simakov O, Gultom VDN, Shimada Y.   +7 more
europepmc   +2 more sources

The First Genome Assembly Of The Dogwhelk Nucella lapillus, a Bioindicator Species For The Marine Environment. [PDF]

Sci Data
Kadiwala J, Hesketh A, De Weerd H, Ritch H, Shakur R.   +4 more
europepmc   +1 more source

Transcriptome analysis reveals candidate genes involved in quercetin biosynthesis in Euphorbia maculata. [PDF]

Sci Rep
Guo S, Song M, Gui M, Wu Q, Yu W, Chen C, Rao Z, Huang S.   +7 more
europepmc   +1 more source

ProtNote: a multimodal method for protein-function annotation. [PDF]

Bioinformatics
Char S, Corley N, Alamdari S, Yang KK, Amini AP.   +4 more
europepmc   +1 more source

Expanding kinetoplastid genome annotation through protein structure comparison. [PDF]

PLoS Pathog
Trinidad-Barnech JM, Sotelo-Silveira J, Do Porto DF, Smircich P.   +3 more
europepmc   +1 more source