Naik: Acute hepatic porphyrias has acute attacks: can be triggered by a number of factors, nausea, vomiting, 2nd-4th decade #ASHG15
5:14pm October 9th 2015 via Hootsuite
Hetanshi Naik (Mt Sinai) Molecular diagnoses of acute hepatic porphyrias: Comparisons of mutation positive results #ASHG15
5:13pm October 9th 2015 via Hootsuite
Friedman: 3/4 had ADD; 3/4 had skeletal abnormality; 4/4 dysmorphic. ARID2 gene features: exp ubiquitously in dev spinal cord #ASHG15
5:06pm October 9th 2015 via Hootsuite
Friedman: 4 patients; all mutations premature truncation; 2/4 had add'l mutations. Clinical features table #ASHG15
5:05pm October 9th 2015 via Hootsuite
Friedman: Looked for de novo, and LoF var's. Found ARID2 gene; contacted clinicians and collected add'l data #ASHG15
5:03pm October 9th 2015 via Hootsuite
Friedman: WES: SureSelect V4; HiSeq 2000 or 2500; hg19/GRCh37. Confirmed by Sanger. Reviewed 3,477 probands with NDD. #ASHG15
Friedman:Intell. Disability (ID) is 3% in population; de novo is causative in many cases. For NDD, can compare trio data #ASHG15
5:02pm October 9th 2015 via Hootsuite
Friedman: Many integrated resources available; 20.8% of cases w/variants in candidate genes. (6.3K affected probands) #ASHG15
5:01pm October 9th 2015 via Hootsuite
Friedman: Their candidate gene discovery: custom db (16K individuals), can look at gene and inheritance patterns via trio analysis #ASHG15
5:00pm October 9th 2015 via Hootsuite
Bethany Friedman (GeneDx): Protein truncating mutations in the ARID2 gene are associated with a novel neurodevelopmental disorder #ASHG15
4:58pm October 9th 2015 via Hootsuite
Yao:2C9 and warfarin dosing: African-Americans have unique poor metabolizer alleles (*5, *6 and need to include *11) #ASHG15
4:50pm October 9th 2015 via Hootsuite
Yao: They have >63K samples; >35K with ethnicity info. Bar chart of ethnicity, mirroring US Census data. #ASHG15
4:49pm October 9th 2015 via Hootsuite
Yao: PGx - P450 enzymes, list of alleles tested for. TaqMan-based; CYP2C9, CPY2C19, 2D6, 3A4, 3A5, and listed star alleles #ASHG15
4:48pm October 9th 2015 via Hootsuite
Huilan Yao (Molecular Testing Labs) Interracial differences in genetic polymorphisms of CYP2C9, CYP2C19, CYP2D6, CYP3A4, and CYP3A5 #ASHG15
4:46pm October 9th 2015 via Hootsuite
Perry: Q:Why would a physician order this test? A:Some could be carrier, or PGx status. #ASHG15
4:45pm October 9th 2015 via Hootsuite
Perry: Q:Insight into actionability? A:CAP and CLIA just returns results; some ongoing studies may look at that. #ASHG15
4:44pm October 9th 2015 via Hootsuite
Perry:60% of the 38% clin sig results: 6 common low-penetrance conditions. Rest: known variable expressivity #ASHG15
4:42pm October 9th 2015 via Hootsuite
Perry: From the '56 ACMG list': 3%. (Okay @ashg_bird you let us know you are still around.) #ASHG15
4:41pm October 9th 2015 via Hootsuite
Perry: Lynch syndrome:not surprising, can come with any family history, young enough, or a survivor #ASHG15
4:39pm October 9th 2015 via Hootsuite
Perry: von Willebrand: this one was expected mild effect. Myoadenylate deaminase, expected low effect. Ov dysgenesis: male patient! #ASHG15
Perry: High pen: non-syndromic hearing loss. 'Generally healthy adult'. Others - galactosemia, CFTR-rel: rarely lab hears back #ASHG15
4:37pm October 9th 2015 via Hootsuite
Perry: Results w/expected clinical sig: 38%. Seems high for healthy individual - but majority were common, low-penetrance conditions #ASHG15
4:36pm October 9th 2015 via Hootsuite
Perry: Mean age was 50.3y, 563/627 participants in UYG event. (Ordered by physician, results returned.) #ASHG15
4:35pm October 9th 2015 via Hootsuite
Perry: CLIA, CAP laboratory. Returns clinically sig results, carrier status, noteworthy VUS. 627 since May 2012 clinical WGS #ASHG15
4:34pm October 9th 2015 via Hootsuite
Denise Perry (Illumina) Contributions of 'healthy genomes' to expand our understanding of Mendelian conditions #ASHG15
4:33pm October 9th 2015 via Hootsuite
Any followers interested in having dinner tonight after the ASHG session finishes at 6:30pm please DM me! (Rare free evening...)
4:31pm October 9th 2015 via Hootsuite
Lyon: Lupski's Cornelia de Lange paper http://t.co/r9DbPm3LBr Major collaboration in acknowledgements #ASHG15
4:14pm October 9th 2015 via Hootsuite
Lyon: Single-fam RNA-seq: TFIID with TAF4 blinds to an E-box; as a 'gene-selective coactivator' May be related to Cornelia de Lange #ASHG15
4:13pm October 9th 2015 via Hootsuite
.@JChrisPires You are welcome! But #ASHG15 still ongoing today, and through Sat PM (I'll plug away until about noon)
4:11pm October 9th 2015 via Hootsuite in reply to JChrisPires
Lyon: Brings up this dystonia-parkinsonism paper in the Phillippines http://t.co/vhJtE7L776 and similar to TAF1 #ASHG15
4:09pm October 9th 2015 via Hootsuite
Lyon: TAF1 has extreme phenotypic variability. Shows huge list of different phenotypes, by type of mutation. #ASHG15
4:07pm October 9th 2015 via Hootsuite
Lyon: Repeated with ILMN, demonstrated add'l members of family helped filter out FP's. #ASHG15
4:05pm October 9th 2015 via Hootsuite
Lyon: Gait abnormalities, corpus callosal abnormalities. Mother has X-chr skewing. Did WGS via CGI, but had 40% FN rate... #ASHG15
4:04pm October 9th 2015 via Hootsuite
Lyon: Have 9 families affected; 3 cases inherited; others w/ de novo mutations. Taf1 'Need an order of magnitude more in ExAC' #ASHG15
4:03pm October 9th 2015 via Hootsuite
Gholson Lyon (CSHL) Variants in TAF1 are associated with a new syndrome with severe intellectual disability #ASHG15
4:00pm October 9th 2015 via Hootsuite
Salpea: 1 extra, higher PKA, normal phen. 2 add'l copies, wing defect. Was able to drive overexpression, show specific dev effect #ASHG15
3:54pm October 9th 2015 via Hootsuite
Salpea: Showed increase in gene exp, PKA activity, and complementatoin test results #ASHG15
3:52pm October 9th 2015 via Hootsuite
Salpea: Chose Drosophila, Pka-C1 KO is lethal. Haploinsufficient is normal phenotype. Created add'l copies via P[acman] tech #ASHG15
3:51pm October 9th 2015 via Hootsuite
Salpea: Used TaqMan CN assays to look at gene dosage of PRKACA at germline; higher dosage, '14 ref http://t.co/McdfTLYJUo #ASHG15
3:50pm October 9th 2015 via Hootsuite
Salpea:Lays out history of PRKACA, and now characterized as a hotspot. Also affects adrenal hyperplasias. #ASHG15 http://t.co/DJksJGSuQU
3:48pm October 9th 2015 via Hootsuite
Paraskevi Salpea (NICHD) PRKACA defects and adrenal tumors: Human and animal studies and gene dosage effects #ASHG15
3:47pm October 9th 2015 via Hootsuite
Blekhman:Q:How does it cp to occult blood? A:Microbiome seems to be better - although they need to take it down to stool level #ASHG15
3:44pm October 9th 2015 via Hootsuite
Blekhman: Has come up with a microbiome prediction score, for known LoF mutations in CRC #ASHG15
3:41pm October 9th 2015 via Hootsuite
MT @GholsonLyon: Presenting work related to TAF1 and a new intellectual disability and neurologic syndrome today at 4 PM in Room 307 #ASHG15
3:40pm October 9th 2015 via Hootsuite
Blekhman: More mutations in tumor, microbiome diversity increases. Individ mut's: APC and fusobacteria, stands alone in LoF mut #ASHG15
3:39pm October 9th 2015 via Hootsuite
Blekhman: Presents results here in Genome Med '15 http://t.co/rFZ66gNVln Looking at the tumor, LoF, APC at top #ASHG15
3:37pm October 9th 2015 via Hootsuite
Blekhman: And then they sample the tumor and microbiome in CRC next to that. #ASHG15
3:35pm October 9th 2015 via Hootsuite
Blekhman: Genetic variation affects microbiome. Recent work: http://t.co/CjUHWTbjQx Healthy microbiome next to healthy tissue #ASHG15
3:34pm October 9th 2015 via Hootsuite
Blekhman: More fusobacteria, but many env factors; stool samples vs localized interaction (microenv); also genetic factors #ASHG15
3:33pm October 9th 2015 via Hootsuite
Blekhman: The microbiome trains our immune system. '11 review http://t.co/8vYuwGvqHM Healthy / disease compared in CRC #ASHG15
3:32pm October 9th 2015 via Hootsuite
