@blueyedgenes SNPedia is actually curated (not crowdsourced). For many years now, only approved edits, or edits from approved editors/users, are accepted.
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SNPedia
97 posts
SNPedia
@SNPedia
SNPedia = the wiki of human DNA variations and their consequences, based on scientific publications.
Free and online 24/7 Katılım Mayıs 2014
129 Takip Edilen346 Takipçiler
@SophieAG @Asher_Wolf Actually, Promethease will be free until the end of the December.
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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.
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@AndrewABranch @23andMe @natraj_arsenal @23andMe allows you to download your raw data. However snpedia lists more than 300 and I've read somewhere more than 1.2K markers are associated with Marfan within the FBN1 gene. It'll require digging through all the publications and identify exactly which allele means what.
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So, how do we throw down a line to consumers stuck in the DTC testing abyss? forbes.com/sites/ellenmat…
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Of course, it used to be 100% of GCs were uncomfortable discussing DTC results w/ patients; the % who are comfortable is increasing fairly rapidly. twitter.com/Erika_Check/st…
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
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@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.
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@StrwbryShrtK Great, last I checked it wasn't there.
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I’ve done 23andme for the heck of it and entered the raw data into promethease, you can learn a lot from it. And what’s awesome my genetic syndrome shows up on it finally, not as rare as before ;) #NoonanSyndrome
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SNPedia retweetledi
SNPedia retweetledi
#GCsonDTC - please join us for this upcoming #TwitterChat on DTC #genetictesting! #GCchat #23andme #ancestry #Genealogy @promethease @SNPedia @GeneticCouns twitter.com/GenC_SM/status…
#GenCSM@GenC_SM
Mark your calendar! #GenCSM #TwitterChat Wednesday - February 21 - 1pm EST Please join @MyGeneCounsel @BRCAresponder & our special guest @promethease #genetictesting #consumers #BRCA #hereditarycancer #DNA #digitalhealth #healthandwellness #MensHealth #WomensHealth
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@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?
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@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.
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Gnomad target by ASHG17 is over 65K genomes & 250K exomes, all on hg38, says @dgmacarthur #ASHG17
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@truedorktimes @EricLaValle Or just use Promethease to get your own report from your 23andMe data; Promethease costs $5 and is based on SNPedia. promethease.com
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@xtaldave @cherryblack Might help you to know that overall coverage of SNPedia by different DTC/DNA companies is on our Testing page: snpedia.com/index.php/Test…
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