Teeling: Locale in France (shows famous photo of Brittany), shows cool video of 3AM processing sleeping bats. 10y of work #AGBT17
9:46am February 15th 2017 via Hootsuite
Teeling: Needed unbiased, non-invasive sampling. Females return to same place every year to same place to breed. 200uL blood #AGBT17
Teeling: 2GB genome, 22k genes, 1/3 repetitive content. '13 Science https://t.co/1rX1Li8FJ3 Age a bat: catch as babies, tagged #AGBT17
9:45am February 15th 2017 via Hootsuite
RT @agbt: Incomparable @EmmaTeeling1 gives riveting talk on the secrets of everlasting youth. #bats #agbt17 https://t.co/61x7XEekQd
9:43am February 15th 2017 via Hootsuite
RT @coregenomics: NJ: "1 in 5 mammals are bats" this is going to be THE fact I remember from #agbt17
Teeling: Suggest that bats are unusually long-lived for their size; also contain Ebola, Rabies, SARS, MERS. #AGBT17
9:42am February 15th 2017 via Hootsuite
Teeling: Shows a 42y old bat, only 5g large, tagged and re-caught decades later. '10 ref https://t.co/LYXXJ225wI bats and mass #AGBT17
Teeling: Bowhead whale '15 ref https://t.co/AYsvjMX2UW , live long; sharks >400y old. Bats: Found everywhere #AGBT17
9:40am February 15th 2017 via Hootsuite
Teeling: While mice live longer, are 30% smaller and have many other side-effects. Nature may have solved some problems already #AGBT17
9:38am February 15th 2017 via Hootsuite
Teeling: Need to study 'extended health-spans'. Rapamycin discovered on Easter Is in the '60's. Fed to mice, acts on mTOR. #AGBT17
9:37am February 15th 2017 via Hootsuite
Teeling: Shows this TIme cover - baby could live to 142 https://t.co/5uDNoPgVL8 The catch: probability of disease stays constant #AGBT17
9:36am February 15th 2017 via Hootsuite
Emma Teeling (Univ Coll Dublin IR) Comparative genomics of bats: the secret of extended longevity? #AGBT17
9:35am February 15th 2017 via Hootsuite
Q: Looking at transcriptome? Jabado: The data gets dirty, thus interest in single-cell. #AGBT17
9:32am February 15th 2017 via Hootsuite
Jabado: Oncohistones - may be reversible, drugs are under development. Makes the case for open-access data #AGBT17
9:30am February 15th 2017 via Hootsuite
Jabado: Recent work '17 Nature Gen https://t.co/6QNOnEIsAm and this work missed by TCGA as this kind of epigenetics wasn't done #AGBT17
9:28am February 15th 2017 via Hootsuite
Jabado: She makes the point that she was called a 'research parasite' by NEJM, which badge she wears proudly... #AGBT17
9:27am February 15th 2017 via Hootsuite
Jabado: Implicated in other cancers. H3.3K36M/I further work in undiff sarcoma '16 Science https://t.co/atEGmixfLq #AGBT17
9:23am February 15th 2017 via Hootsuite
Jabado: No HTERT promoter mutations in children. '12 Science ref https://t.co/2CJFFkgXDO substitution/knockout experiment #AGBT17
9:20am February 15th 2017 via Hootsuite
Jabado: Mutations in children in gliomas 'is a story of development gone wrong'. K27M Histone 3.1: 'the best partner in crime' #AGBT17
9:16am February 15th 2017 via Hootsuite
Jabado: IDH1 mutation (R132 mut) creates 2-hydroxybutryate, affects lysine demethylation, affects Lys36. #AGBT17
9:13am February 15th 2017 via Hootsuite
Jabado: K27M 'is a death sentence' for pediatric glioblastoma. Shows OS chart from prior paper. #AGBT17
9:12am February 15th 2017 via Hootsuite
Jabado: Complex figure has something like 20 different marks. Used 450K methyl array. Fig '12 ref https://t.co/9hs7g9XdFa #AGBT17
9:11am February 15th 2017 via Hootsuite
Jabado: Complex interplay of histone modeling.Crazy-complex active transcription marks w/Histone 3 - H3K27 repress H3K36 activating #AGBT17
9:09am February 15th 2017 via Hootsuite
Jabado: Epigenome - the new code - where histones play a role. Human has at least Histon 3 var's. Methylation, acetylation, others #AGBT17
9:08am February 15th 2017 via Hootsuite
Jabado: Goes back to nuclear org, how histones wrap DNA, comprising the nucleosome; there are chromatin-binding and remodelers #AGBT17
Jabado: Starting with pediatric glioblastomas, points to Histone 3.3 and TP53 mutations in '12 Nature ref https://t.co/vJLz2alz57 #AGBT17
9:07am February 15th 2017 via Hootsuite
Nada Jabado (McGill Univ CAN) Oncohistones: professional hijackers of the epigenome? #AGBT17
9:05am February 15th 2017 via Hootsuite
Elaine Madrid greeting everyone this AM at #AGBT17 https://t.co/BgWs8JpZtN
9:04am February 15th 2017 via Hootsuite
Vilain: Idea is WGS-negative pts could 'soon be integrated into the overall diagnostic strategy' #AGBT17
9:29pm February 14th 2017 via Hootsuite
Vilain: Conclude current NGS technology unable to investigate large structural changes in the genome. #AGBT17
9:28pm February 14th 2017 via Hootsuite
Vilain: EZH2 causes Weaver syndrome (overgrowth disorder), so potential clinical result. #AGBT17
Vilain: Last case, 13yo cauc. female, WGS trio; found EZH1 de-novo 1.6kb deletion. Never shown to be clinical disease, but... #AGBT17
9:27pm February 14th 2017 via Hootsuite
Vilain: Explained microcephaly, brain atrophy. Father was heterozygous; mother gave two deep intron variants. 'Tantalizing' cmpd het #AGBT17
9:25pm February 14th 2017 via Hootsuite
Vilain: Looking at undiagnosed pts, WES not coming up with Dx; found 3.5kb deletion shared by affected children in MED17 gene #AGBT17
9:24pm February 14th 2017 via Hootsuite
Vilain: 'the first molecular Dx on Saphyr platform' #AGBT17
9:20pm February 14th 2017 via Hootsuite
Vilain: PCR and WES neg, RNA-seq of muscle tissue showed exon 37 drop-off. Map showed 5.1MB inversion causing DMD (!) #AGBT17
9:19pm February 14th 2017 via Hootsuite
Vilain: Looked at DMD; each case could ID structural variant w/this next-generation mapping. 1 case, clear. 2nd case: DMD-like #AGBT17
9:18pm February 14th 2017 via Hootsuite
Vilain: Bionano also shows translocations, repeats differences. Goal - to discover novel pathogenic structural vars after WES #AGBT17
9:17pm February 14th 2017 via Hootsuite
Vilain: Views it as a complementary diagnostic - short read NGS, long read NGS, aCGH. Saphyr: 150kb - 2.5Mbp. indels, inversions #AGBT17
9:16pm February 14th 2017 via Hootsuite
Vilain: Throughput is 1 WGS/day. 90% sens for large indels, transversions. Goes quickly through workflow, from sample prep to image #AGBT17
9:15pm February 14th 2017 via Hootsuite
Vilain: Their results were published in JAMA '14 https://t.co/kMuOq6eqNA Novel approach - @bionanogenomics Saphyr (new system) #AGBT17
9:14pm February 14th 2017 via Hootsuite
Vilain: Next: Molecular 'triage': dx by WES. Their success rate is 25%; 28% potential dx; 42% no sig var; 4% new gene discovery #AGBT17
9:12pm February 14th 2017 via Hootsuite
Vilain: Then sequence; result is low success rate, except in specific diseases with modest or no genetic heterogeneity #AGBT17
9:11pm February 14th 2017 via Hootsuite
Vilain: 1K known mutations cause developmental delay. Current flow: rare or common phenotype, clin history, add'l phenotyping #AGBT17
Eric Vilain (UCLA CA, onto Nat'l Childrens Med Ctr DC) Use of next generation mapping in undiagnosed genetic disorders #AGBT17
9:10pm February 14th 2017 via Hootsuite
Whelan: Plan on 500 samples. Able to get 23MB of sequence not covered in std data, median net gain of 16MB. Lost: extreme GC #AGBT17
8:55pm February 14th 2017 via Hootsuite
Whelan: Using 30kb+ MW DNA, 10X Genomics system. Running pilot on schizophrenia and bipolar sequencing, Af American 50 smpls #AGBT17
8:52pm February 14th 2017 via Hootsuite
Chris Whelan (Broad Inst MA) Exploring 50 whole genomes with linked reads #AGBT17
8:50pm February 14th 2017 via Hootsuite
Q: Scaling system? Goto: (Unclear on the answer at this point, how well this method can scale.) #AGBT17
Q: The pore is close to atomic dimension; will it change dimension? Goto: Haven't observed these effects #AGBT17
8:47pm February 14th 2017 via Hootsuite
