Tayoun: Of 90 hearing loss genes, found 23 genes 'w/at least 1 clinically irrelevent exon' #ASHG15
5:45pm October 8th 2015 via Hootsuite
Tayoun: Have found examples where they suspect transcript annotation errors. PCDH5, 32 exons, exon 32 up to 1% MAF #ASHG15
5:44pm October 8th 2015 via Hootsuite
Tayoun: From 3K cases - 82.4% (673/817) of variants have only been seen once. #ASHG15
5:41pm October 8th 2015 via Hootsuite
Tayoun: And this is only from 70-gene hearing loss. 25 to 120 min per case. After 1000's of samples: majority are VUS. Others unique #ASHG15
5:40pm October 8th 2015 via Hootsuite
Abou Tayoun: We need to get past the variant interpretation challenge. 150-200 var's per pt; 5-10 needed to be manually examined #ASHG15
5:39pm October 8th 2015 via Hootsuite
Ahmad Abou Tayoun (CHOP) Defining variation sensitive regions in genes associated with disease #ASHG15
5:38pm October 8th 2015 via Hootsuite
Hurles:For regulatory mutations, need large sample sizes and 'targeted regulome' in addition to WGS projects #ASHG15
5:35pm October 8th 2015 via Hootsuite
Hurles: Looking at LoF constraint scores from ExAC, and use that in their prediction (ongoing work) #ASHG15
Hurles:Onto de novo enrichment: adding published studies to their 4,125 families. Found 122 genes after Bonferroni, Manhattan plot #ASHG15
5:33pm October 8th 2015 via Hootsuite
RT @ksamocha: MH: Use Hardy-Weinberg, autozygosity, and population-specific freqs. Can predict biallelic synonymous variants well. #ASHG15
5:31pm October 8th 2015 via Hootsuite
Hurles: Est of biallelic gt freq: 1/160 individ's in the world have autozygosity, used in calc's. Results: http://t.co/LF0SrKML60 #ASHG15
5:30pm October 8th 2015 via Hootsuite
Hurles: Quantifying phenotypic similarity: related terms, look at frequency in cohort. Integrate to genotype w/shared candidate gene #ASHG15
5:26pm October 8th 2015 via Hootsuite
Hurles: Developmental disorders - 13,958 families, single affected child, list of genes ID's from 4,125 families. Lots of heterogen. #ASHG15
5:23pm October 8th 2015 via Hootsuite
Matt Hurles (Sanger WT UK) Novel dominant and recessive causes of developmental disorders, in coding and non-coding sequences #ASHG15
5:21pm October 8th 2015 via Hootsuite
Sobreira: Matchmaker Exchange website: http://t.co/BAvRA074aw 'Can you take on world peace next?' #ASHG15
5:20pm October 8th 2015 via Hootsuite
Sobreira:Causative gene not captured, or perhaps even paternal imprinting #ASHG15
5:17pm October 8th 2015 via Hootsuite
Sobreira: 359 unsolved cases: locus heterogeneity, unrecognized phenotypic heterogeneity, somatic mosaicism, indel or CNV missed #ASHG15
5:16pm October 8th 2015 via Hootsuite
Sobreira: Mentions the resource GeneMatcher - recent publication http://t.co/0kvrnVfWBB #ASHG15
5:14pm October 8th 2015 via Hootsuite
Sobreira: Rare Mendelian disease - hard to find similar phenotypes. 182 novel, unnamed cases out of 380+ rare diseases #ASHG15
5:13pm October 8th 2015 via Hootsuite
Nara Sobreira (Hopkins) The search for Mendelian genes using WES: Lessons learned from analysis of >5,000 cases #ASHG15
5:09pm October 8th 2015 via Hootsuite
Mason: 3 reads at 0g: 170, 1,752, one other; mouse ID, one sequence was too short. #ASHG15
4:38pm October 8th 2015 via Hootsuite
Mason: Video is hilarious - shows pipette tips flying around. But it loaded in 0g fine. Data shown: higher current at 0g #ASHG15
4:37pm October 8th 2015 via Hootsuite
Mason: About 15-20% error, squiggles, event streams. Mar '16 to go up in space. Dr. Andy Feinberg - in the vomic comet #ASHG15
4:36pm October 8th 2015 via Hootsuite
Mason: Vomit comet - parabolic flight sim: they have 4 in their lab. Describes @nanopore's method. 5bp in pore, 4^5 states (1024) #ASHG15
4:35pm October 8th 2015 via Hootsuite
Mason: Cells - collected in space, frozen. Cell purity ~72-90%. Twins already WES, collections ongoing. MinION v5 next #ASHG15
4:34pm October 8th 2015 via Hootsuite
Mason: miCLIP method m6A recently published '15 Nature Methods http://t.co/NeHCnu9k9L #ASHG15
4:32pm October 8th 2015 via Hootsuite
Mason: Discussion of clonal epialleles 2014 Genome Biol ref http://t.co/NxEH0vLbZE #ASHG15
4:31pm October 8th 2015 via Hootsuite
Mason: Will look at clonality; '12 Nature Genet paper http://t.co/hn8wdY8Erp as well as epialleles #ASHG15
4:29pm October 8th 2015 via Hootsuite
Mason: They will look at biological age via methylation state. Time dilation calculated! 0.103s younger twin! #ASHG15
4:28pm October 8th 2015 via Hootsuite
Mason:Has 'terrestrial protocol', which is 'our regular one'. The published both 5meC, also 5-hydroxy-meC #ASHG15 http://t.co/UIch42TN3v
4:27pm October 8th 2015 via Hootsuite
Mason: The astronauts are already on the ISS. "The lowest-powered study in history'. Includes @nanopore MinION on the ISS #ASHG15
4:24pm October 8th 2015 via Hootsuite
Chris Mason Columbia: Inter-planetary systems biology: twin astronauts at the genetic, epigenetic, transcriptional, and epi... #ASHG15
4:23pm October 8th 2015 via Hootsuite
Kundaje: Matching DNase, and combine with MNase data.8 chr states, about 78% predictive #ASHG15
4:19pm October 8th 2015 via Hootsuite
Kundaje: Now can match periodic density peaks to the several types of organizing nucleosomes via neural net and image classification #ASHG15
4:16pm October 8th 2015 via Hootsuite
Kundaje: ATAC-Seq - using transposase, affinity to accessible chromatin. #ASHG15 '13 Nature Methods http://t.co/8x4gHlcBhZ
4:07pm October 8th 2015 via Hootsuite
Kundaje: Introduces histone marks, and ChromHMM classification 2012 Nature Methods http://t.co/vY47j2uFj1 #ASHG15
4:06pm October 8th 2015 via Hootsuite
Anshul Kundaje (Stanford) The relationship between chromatin architecture, chromatin state, and transcription factor binding #ASHG15
4:04pm October 8th 2015 via Hootsuite
Barakat: Showed FISH of 3.5d embryos, expression of Xist in different crosses. Absence of XCI in vivo in Rnf12 -/- means lethal #ASHG15
3:55pm October 8th 2015 via Hootsuite
Barakat: RNF12 essential, for X-Chr Inactivation (XCI). Reviewed '15 http://t.co/SDyMGRzF7J They dev an RNF12 knockout mouse #ASHG15
3:52pm October 8th 2015 via Hootsuite
Barakat: Mouse, paternal X is inactivated (imprinted). In the inner cell mass, becomes random x inactivation. Xist ncRNA #ASHG15
3:50pm October 8th 2015 via Hootsuite
S Barakat (Erasmus MC): RNF12 is essential for X-inactivation in female mouse embryonic stem cells, is required for female mouse dev #ASHG15
3:48pm October 8th 2015 via Hootsuite
Maher: NF1, RET and VHL genes syndromic. Had 800pts with SDHB/C/D mutations, w/family history. Found 318 probands #ASHG15
3:34pm October 8th 2015 via Hootsuite
Maher: Pheochromocytoma (adrenal gland) and paraganlioma (extra-adrenal tumors), about 40% assoc'd w/germline mutations #ASHG15
3:33pm October 8th 2015 via Hootsuite
Eamonn Maher (U Cambridge): Tumour risks and genotype-phenotype-proteotype analysis of germline mutations in succinate dehydrogenase #ASHG15
3:31pm October 8th 2015 via Hootsuite
Frebourg: #ASHG15 Mentions this recent Nature paper with GOF mutations http://t.co/QfNvtAvqDX LFS: loss of p53 fn. Other missense: GOF
3:28pm October 8th 2015 via Hootsuite
Frebourg: ID'd MDM2, PUMA, p21. Fn validation using yeast p53 binding assay. p53 binding reduced massively w/dom neg TP53 mutation #ASHG15
3:26pm October 8th 2015 via Hootsuite
Frebourg: p53 pathway by genotoxic stress (doxorubicin); then ChIP w/anti-p53 DO-1 Ab. Peak analysis via Homer #ASHG15
3:22pm October 8th 2015 via Hootsuite
Thierry Frebourg: ChIP-Seq analysis of lymphocytes from Li-Fraumeni patients impacts p53 DNA binding of heterozygous TP53 mutations #ASHG15
3:21pm October 8th 2015 via Hootsuite
Weitzel:Q:What do we do? A:A clinical conundrum: need index of suspicion, and get beyond that blood test. Other genes will show this #ASHG15
3:17pm October 8th 2015 via Hootsuite
Weitzel: Loking at mosaicism - 'somatic interference'. cell-free DNA may be another explanation. #ASHG15
3:15pm October 8th 2015 via Hootsuite
