Eric Green summarizes the #GSPfuture sessions. pic.twitter.com/4veCRWGDLX
#GSPfuture Kudos to Deb Nickerson for raising the need for more training/education. Still need to figure out where they go after training.
Debbie Nickerson advocating for better education and training to bring in younger PIs #GSPfuture
@ewanbirney Making sure NHGRI is attracting/exploiting excellent people in bioinformatics. Need to invest in this area. #GSPfuture
MT @ewanbirney: A huge underlying theme in the NHGRI #GSPfuture meeting is the implicit and explicit need for bioinformatics infrastructure
What is the standard today for accessing and sharing human genomics data? Have your say: http://buff.ly/1nY6Z97 #GSPFuture
Andy Clark: Evolution is the single most powerful unifying principle in biology including genetics. #GSPfuture
A huge underlying theme in the NHGRI #GSPfuture meeting is the implicit (common) and explicit (rarer) need for bioinformatics infrastructure
Critically important. RT: @nextgenseek Eichler: wants sequencing technology that sequence and assemble" a genome for $10K #GSPfuture
RT @PaulFlicek: Eichler: Genome Reference Consortium work is not housekeeping. It is foundation for genomic medicine. #GSPfuture #GRCh38
.@KMeltzSteinberg @PaulFlicek Eichler: "Assessing *all* human genetic variation... should be a goal." #gspfuture
@nextgenseek Eichler: Currently, with @PacBio tech its costs about $60K to assemble a human genome #GSPfuture- +1 RT @PaulFlicek: Eichler: Genome Reference Consortium work is not housekeeping. It is foundation for genomic medicine. #GSPfuture
- Eichler: Genome Reference Consortium work is not housekeeping. It is foundation for genomic medicine. #GSPfuture
Eichler: We're missing critical genomes (e.g. prosimians) for reconstructing evolutionary origins of human genome #GSPfuture- MT @obahcall Boerwinkle: new DB/knowledgebase, promoting federated model of data & sharing #GSPFuture Perhaps this can relate to commons
Shendure: interpretation of variants is an NHGRI-critical mission. Yes. #GSPfuture
Aviv Regev on The Human Cell Atlas; cells are a key intermediate from genotype to phenotype #GSPFuture
Earlier form of Nancy Cox's #GSPfuture talk — New Approaches to Large-Scale Data Integ. across variant types & -omics http://www.birs.ca/workshops/2014/14w5011/files/Cox_BIRS_June2014.ppt …- Cox: proposal to improve study efficiency, power using neg correlation btwn polygenic & rare variant burdens for common diseases #GSPFuture
- Evan Eichler: The word evolution hasn't been uttered yet. We've somewhat lost our way. Translation at expense of basic biology. #GSPfuture
- .@KMeltzSteinberg @PaulFlicek Eichler: "Assessing *all* human genetic variation... should be a goal." #gspfuture
- MT @obahcall Boerwinkle: new DB/knowledgebase, promoting federated model of data & sharing #GSPFuture Perhaps this can relate to commons
- Evan Eichler: The word evolution hasn't been uttered yet. We've somewhat lost our way. Translation at expense of basic biology. #GSPfuture
- @girlscientist @ewanbirney If there were a laptop ban, how would people participate in the twitter discussion?
- .@JoeEcker mentions: Basis for...blond hair color http://www.nature.com/ng/journal/v46/n7/abs/ng.2991.html … %20 in KITLG expression due to LEF-enhancer SNP #GSPfuture
- Ecker mentions: Design principles of regulatory sequences http://www.nature.com/nrg/journal/v15/n7/abs/nrg3684.html … for schematics on how to follow up reg. variants #GSPfuture
- Roden: Current rate of incidental findings in CSER (@hail_CSER) is ~3% (to 6%). Quite relevant for #ELSI issues #GSPfuture
- McKinnes mentions Mendelian Loci Contribute to Complex Disease http://www.cell.com/cell/abstract/S0092-8674(13)01024-6 … Mendelians highlight common-disease genes #GSPfuture
- Boenke mentions: LOF mutations in SLC30A8 protect against T2D http://www.nature.com/ng/journal/v46/n4/full/ng.2915.html … Power of combining data for mult. variants #GSPfuture
Great twitter handle for Clinical Sequencing Exploratory Research consortium: @hail_CSER #GSPfuture- Roden: NHGRI resource ClinGen - remedy big problem of annotated variant database, sharing of variants from clinical labs #GSPfuture
@bozenberger IGNITE (Implementing #genomics in practice) w #EMR and decision support #gspfuture http://www.genome.gov/27554264
Dan Roden: Discussing the implementation of genomic sequencing into clinical care. #GSPfuture @hail_CSER- Roderic drew the analogy between Mendelian disease gene discovery and Mouse and Yeast knockouts #GSPfuture
- Dan Roden on genome sequencing for clinical care. http://www.genome.gov/GenomeTVLive/ #GSPfuture
- McKinnes mentions Mendelian Loci Contribute to Complex Disease http://www.cell.com/cell/abstract/S0092-8674(13)01024-6 … Mendelians highlight common-disease genes #GSPfuture
Fixed # McInnes - ~5% of papers in NEJM in the last year are discovery of new Mendelian diseases. #GSPfuture
Roderick McKinnes: Discussing importance of Non protein coding genes for disease etiology discovery including Mendelian disease: #GSPfuture- McKinnes on the genomic basis of Mendelian disorders. @solvemendelian #GSPfuture http://www.genome.gov/GenomeTVLive/
- Michael Boehnke: Making another call for this being the time to move at least some of the larger NHGRI studies to Whole Genomes #GSPfuture
- @obahcall #gspfuture MB: allowing call back of patients (w consent) is key to moving forward. (data share and sample re-use)
- MB: Rapid data sharing most import legacy of HGP. Now go beyond depositing data, aggregate to max utility. Need broad consent #GSPFuture
- Boenke mentions: LOF mutations in SLC30A8 protect against T2D http://www.nature.com/ng/journal/v46/n4/full/ng.2915.html … Power of combining data for mult. variants #GSPfuture
Good advice jars the ear. #GSPfuture- Felsenfeld Council says acknowledge history of program but don't be bound by it #GSPfuture
- #GSPfuture Question - “dire absence of epigenomics” and other questions about boundaries of genomics.
- Eric's focus on resource development and scale; contrast to the scale discussion (more genomics happening outside of NHGRI) #GSPfuture
- @splon Green pt 3 - Going forward. Retain 7 characteristics of past while moving on past areas organism seq, cancer & microbiome. #GSPfuture
- Green: Interesting factoid: More more money spent at NIH on #genomics outside of NHGRI than within #GSPfuture
- Green: Charact features of the GSP: large in scale, consortia oriented, highly managed, resource generating, technology advancing #GSPFuture
- #GSPfuture Green: Characteristics sequencing programs. Large scale, Consortia-oriented, highly managed, resource-generating, Tech advancing
- Green: Post HGP, major focus areas range from basic discovery for genome structure & disease to clinical/genomic medicine #GSPFuture
- Future of large-scale sequencing research at NHGRI. Discussion now at http://1.usa.gov/1qxVJnA #GSPfuture @hail_CSER
- There is a hashtag for the NHGRI meeting - #GSPfuture
- Live webcast of today's future of the Genome Sequencing Program meeting at 8:30 ET. http://www.genome.gov/GenomeTVLive/ #GSPfuture
- Watch/tweet July 28-29 meeting on the future of NHGRI's Genome Sequencing Program! #GSPfuture http://1.usa.gov/1qxVJnA
