Tweets from Hootsuite

Rudy: Found HuRef-1 alignment - GRCh38 still doesn't match. @jcventer and he shares this sequence. #TCGC15

3:59pm June 22nd 2015 via Hootsuite

Rudy: Went back to raw data, BWA vs. other aligners - BLAT data showed uniqueness, but lines up to Chimp (!) Tried any other assy #TCGC15

3:57pm June 22nd 2015 via Hootsuite

Rudy: Another mutation - one base deletion on a splice donor site for PSPH gene. Very rare, damaging - many nearby novel muts #TCGC15

3:56pm June 22nd 2015 via Hootsuite

Rudy: "I'm a happy steak eater - so far"; OTC deficiency can be triggered by some kind of shock. #TCGC15

3:54pm June 22nd 2015 via Hootsuite

Rudy: ClinVar update path, late onset Dx. 'Now personal and interesting'. OTC gene - on chrX, one copy - affects protein metabolism #TCGC15

3:53pm June 22nd 2015 via Hootsuite

Rudy: His own exome; now with ExAC, has a hemizygote G/A that 2/60K individuals also have; ornithine transcarbamylase deficiency #TCGC15

3:51pm June 22nd 2015 via Hootsuite

Rudy: Shows utility of VarSeq. Shows interface to hide unneeded metadata; ability to setup filter chains to break down WES data. #TCGC15

3:50pm June 22nd 2015 via Hootsuite

Gabe Rudy @gabeinformatics has a personal family trio story too. Reviews structure of .vcf, and need for GUI (VarSeq) #TCGC15

3:43pm June 22nd 2015 via Hootsuite

Pickard: 'Data sharing is critical for insights' - blog here: http://t.co/yiJOKBTXTG #TCGC15

3:41pm June 22nd 2015 via Hootsuite

Pickard: "Homebrew computers in the '70's". Personal genomics is real; some dark alleys but not all "some promising leads" #TCGC15

3:40pm June 22nd 2015 via Hootsuite

Pickard: Pointed to this Lancet publication series on Autism by Geschwind and State http://t.co/Y6UXSy6YRu #TCGC15

3:40pm June 22nd 2015 via Hootsuite

Pickard Sifted de novo, compound hets; searched autism db's http://t.co/UrG9UD1cGU http://t.co/lRx654uNhg http://t.co/xKiV9M8llR #TCGC15

3:40pm June 22nd 2015 via Hootsuite

Pickard: VarSeq by Golden Helix (Gabe Rudy gave earlier talk) http://t.co/Ybe8tSBotM Divides out mutations by type (de novo, etc) #TCGC15

3:40pm June 22nd 2015 via Hootsuite

Pickard: Used VarSeq and DNANexus; cost for Amazon hosting via @dnanexus about same as DIY on Amazon cloud. #TCGC15

3:39pm June 22nd 2015 via Hootsuite

Pickard: Ran into problem with differing informatics pipelines; thus the need for FASTQ's. Found false-positive de novo var's #TCGC15

3:39pm June 22nd 2015 via Hootsuite

Pickard: Used @AllSeq for WGS as broker, cost via HiSeq X10 was $1.8K; did trio + add'l child; 325GB data/sample (81h to xfer) #TCGC15

3:39pm June 22nd 2015 via Hootsuite

Pickard: Adult child w/autism, he got an Rx and bought purple-cap tubes from Amazon; got a blood draw from a local clinic (!) #TCGC15

3:39pm June 22nd 2015 via Hootsuite

I just realized I was tweeting using a mis-spelled hashtag! Oh well - #TCGA15 #TCGC15 will need to re-send. (Sorry followers!)

3:38pm June 22nd 2015 via Hootsuite

Pickard: 'Data sharing is critical for insights' - blog here: http://t.co/yiJOKBTXTG #TCGA15

3:36pm June 22nd 2015 via Hootsuite

Pickard: "Homebrew computers in the '70's". Personal genomics is real; some dark alleys but not all "some promising leads" #TCGA15

3:30pm June 22nd 2015 via Hootsuite

Pickard: Mentioned @GA4GH and their work on genomic data sharing, and the Beacon Project "like the 'go fish' card game" #TCGA15

3:27pm June 22nd 2015 via Hootsuite

Pickard: Pointed to this Lancet publication series on Autism by Geschwind and State http://t.co/Y6UXSy6YRu #TCGA15

3:26pm June 22nd 2015 via Hootsuite

Pickard Sifted de novo, compound hets; searched autism db's http://t.co/UrG9UD1cGU http://t.co/lRx654uNhg http://t.co/xKiV9M8llR #TCGA15

3:24pm June 22nd 2015 via Hootsuite

Pickard: VarSeq by Golden Helix (Gabe Rudy gave earlier talk) http://t.co/Ybe8tSBotM Divides out mutations by type (de novo, etc) #TCGA15

3:22pm June 22nd 2015 via Hootsuite

Pickard: Used VarSeq and DNANexus; cost for Amazon hosting via @dnanexus about same as DIY on Amazon cloud. #TCGA15

3:19pm June 22nd 2015 via Hootsuite

Pickard: Ran into problem with differing informatics pipelines; thus the need for FASTQ's. Found false-positive de novo var's #TCGA15

3:18pm June 22nd 2015 via Hootsuite

Pickard: Used @AllSeq for WGS as broker, cost via HiSeq X10 was $1.8K; did trio + add'l child; 325GB data/sample (81h to xfer) #TCGA15

3:17pm June 22nd 2015 via Hootsuite

Pickard: Adult child w/autism, he got an Rx and bought purple-cap tubes from Amazon; got a blood draw from a local clinic (!) #TCGA15

3:15pm June 22nd 2015 via Hootsuite

@kthomaspickard gives a shortcourse #TCGC15 talk on his personal journey. Crowdsourced project on http://t.co/vOnb6kbuYU to WGS @hudsonalpha

3:14pm June 22nd 2015 via Hootsuite

I'll be live-tweeting #TCGC15 http://t.co/RGmuww2c2w today through Wed, all about the 'unstoppable march of genomics into clinical practice"

11:31am June 22nd 2015 via Hootsuite

If any followers are attending The Clinical Genome Conference (SF 6/22-6/24) #TCGC15 I'd enjoy meeting IRL - come up and say 'hi'!

11:31am June 22nd 2015 via Hootsuite

MT @CHI_Healthtech: #TCGC15 for updates and live tweets from The Clinical Genome Conference! http://t.co/mJ6xzF8RGL http://t.co/ggYdpyFtxy

10:20am June 22nd 2015 via Hootsuite

RT @kthomaspickard: Getting ready to present DIY family trio seq results with @gabeinformatics at #TCGC15 on Monday. http://t.co/FgB3qJ3i63

10:15am June 22nd 2015 via Hootsuite

RT @genome_gov: Stanford researchers mash up TCGA and ENCODE data to suss out cancer mutations in genome’s dark spots http://t.co/nT12GuFlNm

8:40am June 22nd 2015 via Hootsuite

RT @genome_gov: Just posted! A cornucopia of videos from the recent Genomic Medicine 8 meeting http://t.co/5uLNGbIk47 http://t.co/IbXZhuhYqc

7:40am June 22nd 2015 via Hootsuite

How does one sequence the exome of a 30GB organism? @biorxivpreprint > http://t.co/bbrakTNcjc #genetics HT @billbarendse

6:25am June 22nd 2015 via Hootsuite

RT @jamesfeigenbaum: Losing my mind in two paragraphs http://t.co/V4B3F1Swhz #multiplehypothesistesting4life http://t.co/G8s7aKI3nS

5:25am June 22nd 2015 via Hootsuite

How To Find Happiness: 3 Secrets From Research | Barking Up the Wrong Tree http://t.co/NIRjTd8NeG

4:05am June 22nd 2015 via Hootsuite

Game of chances: inheritance is a question of probability, not destiny | Science | The Guardian http://t.co/5cW0QsdShn

10:00pm June 21st 2015 via Hootsuite

RT @redpenblackpen: And special for #FathersDay some #SciDad humor <groan> http://t.co/6zfSf1Rf0n #rpbprecap http://t.co/iDfacdmAeq

9:45pm June 21st 2015 via Hootsuite

RT @myriadgenetics: 1 in 7 men will be diagnosed with #prostatecancer sometime in his lifetime. http://t.co/0RjM7pdFFF #MensHealthWeek

8:45pm June 21st 2015 via Hootsuite

RT @CNET: Teen shot dead after using app to track lost cell phone http://t.co/hh9QwKOXQ3 http://t.co/aQcm6wXQEs

7:40pm June 21st 2015 via Hootsuite

RT @hmtme: NetworkAnalyst for statistical, visual and network-based meta-analysis of gene expression data http://t.co/TaqsIeznbI

6:40pm June 21st 2015 via Hootsuite

RT @mental_floss: Liquid Nitrogen + Balloons = Wait, What? — http://t.co/p2zJi6mxq9 http://t.co/vNkdosp2gO

5:40pm June 21st 2015 via Hootsuite

I'll be trying #7 RT @mashable: 21 dads who are still adjusting to parenthood: http://t.co/qQXiYbV0Un http://t.co/Wp28QxXnbl

4:35pm June 21st 2015 via Hootsuite

MT @mrsjulienelson: #NatlMakerFaire, this poster guides deeper thinking while #making: http://t.co/k8O0LNYM5q http://t.co/2Ib0JoDx4U

3:10pm June 21st 2015 via Hootsuite

RT @Lewis_Lab: Trying to live tweet a conference http://t.co/vzJn0JSjV9

1:30pm June 21st 2015 via Hootsuite

RT @TrendsCellBio: A #3dprinted nuclear pore complex from @NIH at #NatlMakerFaire “It’s beautiful.” http://t.co/uWrgldqvvj

12:15pm June 21st 2015 via Hootsuite