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Also, people seem to think iPS cells are SO much easier to work with than yeast, worms or even flies. #ASHG14
People are sure putting a lot of faith in iPS cells. I would take a personalized model organism over iPS cells any day of the week. #ASHG14
Heading to the poster session. Will livetweet my favs. #ASHG14
Joseph Buxbaum (@IcahnMountSinai): most genetic risk for autism resides in common variation. #ASHG14
Evidence in ancestry-diverse population that de novo mutation rate correlated with father's age #ASHG14
.@jxchong: half of the estimated 7,000 #rarediseases are diagnosed, but half are not, ie we don't know the causal gene yet. #ASHG14
#ASHG14 I'm giving my first ASHG talk at 2:45 about the discovery rates in the Centers for Mendelian Genomics @solvemendelian
Postdoc at U Washington. Human Geneticist. Coder. Mendelian/rare disease genomics, NGS analysis, modifiers of CF GWAS and other random projects
Christian Gilissen (Radboud U) on using WGS to identify major causes of severe intellectual disability. #ASGH14
.@bcmhouston doing paradigmatic work combining basic science (Drosophila genetics) w/ applied science (#raredisease gene discovery). #ashg14
Manish Jaiswal: human genes that have > 1 orthologs of an essential fly gene are 3X more likely to be associated with disease. #ASHG14
Manish Jaiswal: step 1 is create mutant flies w/ neurodegen. phenotypes and step 2 is match these mutants to patients variants. #ASHG14
Manish Jaiswal (@bcmhouston) on using Drosophila to validate WES variants in #raredisease diagnostic odysseys. #ASHG14
I really wish speakers would include a rudimentary budget itemization for the projects/experiments they present. #ASHG14
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