Bioinformatics

48 results - showing 31 - 40

Results list
eXtasy #Software Submitted by kgurwitz@gmail.com - Fri, 04/01/2016 - 23:30 This tool "takes into account the putative deleteriousness of the variant, haploinsufficiency predictions of the underlying gene and the similarity of the given gene to known genes in the given phenotype" - from the eXtasy website
PubMed Browser - Human Phenotype Ontology (HPO) #Database Submitted by kgurwitz@gmail.com - Fri, 04/01/2016 - 22:23 Retrieve publications quickly using HPO and MeSH terms. Gain quickly insight into pair-wise associations, including HPO - HPO, MeSH - HPO or MeSH - MeSH Download HPO and MeSH annotations associated with a publication in a tabular format Download HPO annotations for MeSH diseases Please see this paper outlining the PubMed Browser HPO search tool: …
MyVariant.info #Database Submitted by kgurwitz@gmail.com - Fri, 04/01/2016 - 22:19 "MyVariant.info provides simple-to-use REST web services to query/retrieve variant annotation data, aggregated from many popular data resources." - from the MyVariant.info website
Splicing-based Analysis of Variants (SPANR) #Software Submitted by kgurwitz@gmail.com - Fri, 04/01/2016 - 20:51 "SPANR addresses a key unmet challenge in genomics research, which is to ascertain how single nucleotide variations (SNVs) cause splicing misregulation and may lead to disease. Unlike any other approach, this tool can analyze synonymous, missense and nonsense exonic SNVs, as well as intronic SNVs that are up to 300nt from splice junctions." - from the SPANR website
Genome-scale Integrated Analysis of gene Networks in Tissues (GIANT) #Database Submitted by kgurwitz@gmail.com - Fri, 04/01/2016 - 08:41 Database of tissue-specific gene interactions. Multi-tissue analysis (change in function of a gene across tissues) also possible. Tribe is integrated. Reprioritization of functional associations from a genome-wide association study (GWAS) - NetWAS analysis
Drug Gene Interaction Database (DGIdb) #Database Submitted by kgurwitz@gmail.com - Fri, 04/01/2016 - 08:38 Search for drug-gene interactions by gene or drug names. Search for druggable categories for particular genes.
DisGeNET #Database Submitted by kgurwitz@gmail.com - Fri, 04/01/2016 - 08:34 "The DisGeNET database integrates human gene-disease associations (GDAs) from various expert curated databases and text-mining derived associations including Mendelian, complex and environmental diseases (Piñero et al., 2015; Bauer-Mehren et al, 2011). The integration is performed by means of gene and disease vocabulary mapping and by using the DisGeNET association type ontology." - from the…
Genome-wide Repository of Associations between SNPs and Phenotypes (GRASP) #Database Submitted by kgurwitz@gmail.com - Fri, 04/01/2016 - 07:40 Annotated GWAS data. Database available online or for download.
Genomic and Precision Medicine #MOOC Submitted by rehabbashaaree@gmail.com - Fri, 03/11/2016 - 23:05 Introduction to basics of genomics and the clinical aspects of genomic medicine.
Advances in Bioinformatics #Journal Submitted by vnembaware - Wed, 03/09/2016 - 23:41 "Advances in Bioinformatics is a peer-reviewed, open access journal that publishes original research articles as well as review articles in all areas of bioinformatics. Advances in Bioinformatics currently has an acceptance rate of 17%. The average time between submission and final decision is 60 days and the average time between acceptance and publication is 35 days." Copied from Journal…

Results list

eXtasy

#Software
Submitted by kgurwitz@gmail.com - Fri, 04/01/2016 - 23:30

This tool "takes into account the putative deleteriousness of the variant, haploinsufficiency predictions of the underlying gene and the similarity of the given gene to known genes in the given phenotype" - from the eXtasy website

PubMed Browser - Human Phenotype Ontology (HPO)

#Database
Submitted by kgurwitz@gmail.com - Fri, 04/01/2016 - 22:23

Retrieve publications quickly using HPO and MeSH terms.

Gain quickly insight into pair-wise associations, including HPO - HPO, MeSH - HPO or MeSH - MeSH

Download HPO and MeSH annotations associated with a publication in a tabular format

Download HPO annotations for MeSH diseases

Please see this paper outlining the PubMed Browser HPO search tool:
…

MyVariant.info

#Database
Submitted by kgurwitz@gmail.com - Fri, 04/01/2016 - 22:19

"MyVariant.info provides simple-to-use REST web services to query/retrieve variant annotation data, aggregated from many popular data resources." - from the MyVariant.info website

Splicing-based Analysis of Variants (SPANR)

#Software
Submitted by kgurwitz@gmail.com - Fri, 04/01/2016 - 20:51

"SPANR addresses a key unmet challenge in genomics research, which is to ascertain how single nucleotide variations (SNVs) cause splicing misregulation and may lead to disease. Unlike any other approach, this tool can analyze synonymous, missense and nonsense exonic SNVs, as well as intronic SNVs that are up to 300nt from splice junctions." - from the SPANR website

Genome-scale Integrated Analysis of gene Networks in Tissues (GIANT)

#Database
Submitted by kgurwitz@gmail.com - Fri, 04/01/2016 - 08:41

Database of tissue-specific gene interactions.

Multi-tissue analysis (change in function of a gene across tissues) also possible.

Tribe is integrated.

Reprioritization of functional associations from a genome-wide association study (GWAS) - NetWAS analysis

Drug Gene Interaction Database (DGIdb)

#Database
Submitted by kgurwitz@gmail.com - Fri, 04/01/2016 - 08:38

Search for drug-gene interactions by gene or drug names.

Search for druggable categories for particular genes.

DisGeNET

#Database
Submitted by kgurwitz@gmail.com - Fri, 04/01/2016 - 08:34

"The DisGeNET database integrates human gene-disease associations (GDAs) from various expert curated databases and text-mining derived associations including Mendelian, complex and environmental diseases (Piñero et al., 2015; Bauer-Mehren et al, 2011). The integration is performed by means of gene and disease vocabulary mapping and by using the DisGeNET association type ontology." - from the…

Genome-wide Repository of Associations between SNPs and Phenotypes (GRASP)

#Database
Submitted by kgurwitz@gmail.com - Fri, 04/01/2016 - 07:40

Annotated GWAS data. Database available online or for download.

Genomic and Precision Medicine

#MOOC
Submitted by rehabbashaaree@gmail.com - Fri, 03/11/2016 - 23:05

Introduction to basics of genomics and the clinical aspects of genomic medicine.

Advances in Bioinformatics

#Journal
Submitted by vnembaware - Wed, 03/09/2016 - 23:41

"Advances in Bioinformatics is a peer-reviewed, open access journal that publishes original research articles as well as review articles in all areas of bioinformatics. Advances in Bioinformatics currently has an acceptance rate of 17%. The average time between submission and final decision is 60 days and the average time between acceptance and publication is 35 days." Copied from Journal…