SNPedia

SNPedia = the wiki of human DNA variations and their consequences, based on scientific publications.

[SNPedia @SNPedia]

@blueyedgenes SNPedia is actually curated (not crowdsourced). For many years now, only approved edits, or edits from approved editors/users, are accepted.

[SNPedia @SNPedia]

@SophieAG @Asher_Wolf Actually, Promethease will be free until the end of the December.

[SNPedia @SNPedia]

And even though DTC companies decline to make their raw data genotype frequencies public (which would clearly be the right thing to do), Promethease also shows "likely miscalls" (i.e. false positives) based on the raw data from Promethease users compared to expected frequencies.

[SNPedia @SNPedia]

@davidm180914 like https://t.co/OsjRXXIesL?

[SNPedia @SNPedia]

@tocsa2 @AndrewABranch @23andMe @natraj_arsenal Or just use promethease ...

[SNPedia @SNPedia]

So, how do we throw down a line to consumers stuck in the DTC testing abyss? https://t.co/OFNgAFwv6e

[SNPedia @SNPedia]

Of course, it used to be 100% of GCs were uncomfortable discussing DTC results w/ patients; the % who are comfortable is increasing fairly rapidly. https://t.co/4oXsMCt5Ab

[Erika Check Hayden @Erika_Check]

Stephen Bleyl @uutah distinguishes between "direct to consumer" genetic testing aka @23andme, "consumer directed" testing such as @color and DIY consumer data exploration aka @promethease: 80% of genetic counselors aren't comfortable discussing DTC results w/patients #UUPrecMed

[SNPedia @SNPedia]

@Noonan_Syndrome @StrwbryShrtK We're always open to improving and expanding our information, so if any of your geneticists want to help improve the #NoonanSyndrome data available to consumers through SNPedia and Promethease, let us know.

[#GenCSM @GenC_SM]

In less than an hour, please join #GenCSM for an exciting #TwitterChat on #DTC genetic testing and what your #rawData CAN and CAN'T tell you.
1 PM EST #GenCSM

[My Gene Counsel @MyGeneCounsel]

#GCsonDTC - please join us for this upcoming #TwitterChat on DTC #genetictesting! #GCchat #23andme #ancestry #Genealogy @promethease @SNPedia @GeneticCouns https://t.co/ELaLSu8s5U

[SNPedia @SNPedia]

@antonioregalado Peer-reviewed publication? AUC?

[SNPedia @SNPedia]

@estarianne You realize data about effects in males is included because you share DNA with a father as well as possibly uncles, brothers, and sons, right?

[SNPedia @SNPedia]

@VaActiveAngels @promethease @ancestrydna If a variant is reported in SNPedia, AND, there is raw data for that variant in the file you got for yourself from the company you used, then it will be in your Promethease report. There are >100K SNPs in SNPedia, but most companies test only a fraction of them.

[SNPedia @SNPedia]

@dgmacarthur Correction: by ASHG18 (!) @dgmacarthur #ASHG17

[SNPedia @SNPedia]

Gnomad target by ASHG17 is over 65K genomes & 250K exomes, all on hg38, says @dgmacarthur #ASHG17

[SNPedia @SNPedia]

PeopleSeq (Zoltick) reports that 89% of people find sequencing to be valuable #ASHG17

[SNPedia @SNPedia]

@gareth862 so say we all

[SNPedia @SNPedia]

@petermurrayrust SNPedia

[SNPedia @SNPedia]

@truedorktimes @EricLaValle Or just use Promethease to get your own report from your 23andMe data; Promethease costs $5 and is based on SNPedia. https://t.co/oz0SxqY1NF

[SNPedia @SNPedia]

@xtaldave @cherryblack Might help you to know that overall coverage of SNPedia by different DTC/DNA companies is on our Testing page: https://t.co/tCUHauAwp1