websites about finding genes assiociated with rare-disease which is unreported before

Question

[357150421]

Hi,

Where can I find latest news about genes associated with rare-disease which is unreported before, like this literature: doi:10.1038/gim.2015.10

Searching literature is hard and time wasting, could anyone help me.

Thanks

[NB]

time wasting ??? -> I don't really agree with that.

But have you thought about using tools such as PubCrawler or PubMed and setting up alerts with appropriate keywords to give you a daily/weekly/monthly updates on new literature?

[Garan]

Have you tried OMIM's genemap (http://www.omim.org/search/advanced/geneMap) - you can specify a date range if you're only interested in entries updated recently (also they have a full phenotype list with genes http://omim.org/phenotypicSeries/all)? Or mouse phenotyping via http://www.mousephenotype.org/ (you can specify which phenotypes you are interested in via HPO terms and return a list of mouse genes that have exhibited the phenotype on knockout / down)? If you are looking for a second case to match a potential pathogenic variant in Humans maybe genematcher (http://genematcher.org)? ClinVar or HGMD both provide annotations linked to pathogenicity for their variants.

Answer 1

[DG]

Other than maybe a rare disease group or consortium putting up items as news or something similar, really the only way you are going to keep on top of this is by regularly reading the literature, which is what you should be doing as a scientist anyway. I worked in rare disease gene discovery (and still do to an extent) and that is what I do. As @sukmb suggested in a comment, you can set up some automated alters and searches to try and automatically get data as it is published. I also subscribe to the Table of Contents publishing alerts of several journals where these kinds of discoveries are frequently published (EJHG, AJHG, PNAS, PLoS Genetics, etc). Most novel genes will end up in a relatively large journal unless the data supporting it isn't quite so clear cut (we had this situation when publishing MAP3K6 as a candidate gene but it still made PLoS Genetics).

There are tools out there to make your life easier and more streamlined in this regard, but you can't (and shouldn't) get away with not reading the appropriate literature regularly.

[357150421]

Thanks for the help, I just want to test a candidate gene finding programs for rare disease but I have few experience with rare disease, what I want is just ask for vcf files from authors of latest candidate gene report literature. Since there is no such a shortcut, I think I have to search form journals by myself.