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Miquel Bernardo

dblp:86/6169 · DBLP profile ↗
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1ranked-venue papers
0as first author
0since 2021 · last 2018
0000-0001-8748-6717ORCID · reported

Domains — the database's venue-derived domains; a paper can count in several

Applied, interdisciplinary, general and emerging computing · 1

Expertise — from the expertise taxonomy: the topics of the expert's papers under the CCF categories. A weight counts papers with recency: 1 for a paper about the topic, 0.3 when the topic is its context, halved every five years.

Interdisciplinary, comprehensive, and emerging computing
1 paper
Bioinformatics and computational biology · 100%

Topics — the 3 heaviest of 3, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology
genomics
0.312018
SiNoPsis: Single Nucleotide Polymorphisms selection and promoter profiling · Bioinform. 2018
Bioinformatics and computational biology › statistical genetics › single nucleotide polymorphism analysis
SNP selection
0.312018
SiNoPsis: Single Nucleotide Polymorphisms selection and promoter profiling · Bioinform. 2018
Bioinformatics and computational biology › population genetics
linkage disequilibrium
0.112018
SiNoPsis: Single Nucleotide Polymorphisms selection and promoter profiling · Bioinform. 2018

Methods — techniques the papers use, named apart from their topics

visualization · 0.3
YearPublicationVenuePosition
2018 SiNoPsis: Single Nucleotide Polymorphisms selection and promoter profiling
abstract
MOTIVATION: The selection of a single nucleotide polymorphism (SNP) using bibliographic methods can be a very time-consuming task. Moreover, a SNP selected in this way may not be easily visualized in its genomic context by a standard user hoping to correlate it with other valuable information. Here we propose a web form built on top of Circos that can assist SNP-centered screening, based on their location in the genome and the regulatory modules they can disrupt. Its use may allow researchers to prioritize SNPs in genotyping and disease studies. RESULTS: SiNoPsis is bundled as a web portal. It focuses on the different structures involved in the genomic expression of a gene, especially those found in the core promoter upstream region. These structures include transcription factor binding sites (for promoter and enhancer signals), histones and promoter flanking regions. Additionally, the tool provides eQTL and linkage disequilibrium (LD) properties for a given SNP query, yielding further clues about other indirectly associated SNPs. Possible disruptions of the aforementioned structures affecting gene transcription are reported using multiple resource databases. SiNoPsis has a simple user-friendly interface, which allows single queries by gene symbol, genomic coordinates, Ensembl gene identifiers, RefSeq transcript identifiers and SNPs. It is the only portal providing useful SNP selection based on regulatory modules and LD with functional variants in both textual and graphic modes (by properly defining the arguments and parameters needed to run Circos). AVAILABILITY AND IMPLEMENTATION: SiNoPsis is freely available at https://compgen.bio.ub.edu/SiNoPsis/. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Daniel Boloc, Natalia Rodríguez, Patricia Gassó, Josep F. Abril, Miquel Bernardo, Amalia Lafuente, Sergi Mas
Bioinform.5