SNPedia
@SNPedia
SNPedia = the wiki of human DNA variations and their consequences, based on scientific publications.
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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.
So, how do we throw down a line to consumers stuck in the DTC testing abyss? forbes.com/sites/ellenmat…
Of course, it used to be 100% of GCs were uncomfortable discussing DTC results w/ patients; the % who are comfortable is increasing fairly rapidly.
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
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
#GCsonDTC - please join us for this upcoming #TwitterChat on DTC #genetictesting! #GCchat #23andme #ancestry #Genealogy @promethease @SNPedia @GeneticCouns
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
Gnomad target by ASHG17 is over 65K genomes & 250K exomes, all on hg38, says @dgmacarthur #ASHG17
PeopleSeq (Zoltick) reports that 89% of people find sequencing to be valuable #ASHG17
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…
Average of 2.35 carrier variants found per individual in exome sequences (range 0 - 5) from Baylor #acmgmtg17
Half of "VUS - suspicious" variants were eventually reclassified as pathogenic/LP in Illumina's UYG genomes - so worth keeping #acmgmtg17
@jasonvassey most? variants in full genome sequencing of healthy individuals could have been seen in $99 direct-to-consumer tests #acmgmtg17
Sisters deal with reality of rare, deadly genetic mutation dispatch.com/entertainmentl…; in SNPedia, the mutation is snpedia.com/index.php/Rs38…
On Learning to Read Your DNA’s Autobiography tinyurl.com/jdfovfq via @CienciaPR #promethease #myDNAmyData
Access to *data*, or access to *results*? Which is it - there's a big difference! #myDNAmyData
#RootsTech & #NotAtRootsTech peeps: Have you used Promethease.com to help map important atDNA SNPs onto chromosome segment maps?
Opportunity to mention rare disease mutations of interest ... such as those present in SNPedia - or that should be added.
.@tibbaroen If anyone with serious resources and interest ever approaches us about it, we'd definitely discuss it.
.@NIHDirector Kudos for #PMINetwork! Any predictions on which countries will start 1M+ programs, incl. Return of Results to participants?
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