Mark Daly (Broad): A tryst with genetics #ASHG14
12:23pm October 20th 2014 via Hootsuite
AP: Emph. on family life; 'a true model for the future scientist'; a sparkling intellect and outstanding character #ASHG14
12:22pm October 20th 2014 via Hootsuite
AP: On Daly: "He wanted to be a lawyer, or a poker player" He can't be bothered w/ self-promotion, prefer to work on next problem #ASHG14
12:21pm October 20th 2014 via Hootsuite
Intro by Aarno Palotie to Mark Daly (Broad): 'Fearless' and 'One of the best people you will ever meet'. #ASHG14
12:18pm October 20th 2014 via Hootsuite
AG: The future? 1000's of genomes; discovery of better methods & strategies; 'need continued communication" #ASHG14
12:15pm October 20th 2014 via Hootsuite
AG:"Keep learning. There are so many great ideas out there." "The most valuable tools and algorithms are often extremely simple." #ASHG14
12:14pm October 20th 2014 via Hootsuite
AG: "Take the time to be amazed. Drop everything and explore a new idea." #ASHG14
12:13pm October 20th 2014 via Hootsuite
AG: 'The secret to my success' with large panel of all his students. "One person and a good idea can make a difference" #ASHG14
GA: WGS in Sardinia; Montgomery, Novembre: increase from 66 to 2120 samples accuracy of gt increased dramatically #ASHG14
12:12pm October 20th 2014 via Hootsuite
GA: Optimal model for analyzing 1000 genomes? 3 methods (Broad, Mich, Sanger) - all combined for the best solution #ASHG14
12:11pm October 20th 2014 via Hootsuite
GA: '09 advent of WGS: story of visiting Mark Daly, picking up a large salmon, and cooking it at home for 4 kids. 'An inspiration' #ASHG14
12:10pm October 20th 2014 via Hootsuite
GA: First paper: shift from linkage to assoc'n. Lon Cardon credited. '02-'07:MERLIN, rapid pedigree analysis (10SNPs/40s was fast) #ASHG14
12:07pm October 20th 2014 via Hootsuite
GA: Sample sizes chart: 33K samples (Haplotype ref), 40K (Macular degen.) etc. At Sanger '97-01: few hundred gt's per day #ASHG14
12:06pm October 20th 2014 via Hootsuite
Goncalo Abecasis: "Adventures in Human Genetics" #ASHG14
12:05pm October 20th 2014 via Hootsuite
AC: Goncalo was named this AM as a new member of the IOM #ASHG14
12:04pm October 20th 2014 via Hootsuite
AC: Also keen interest in complex traits; T2D, lipids, psoriasis. Leading role in TGP, also Haplotype Reference Consortium #ASHG14
12:03pm October 20th 2014 via Hootsuite
AC: Goncalso dev. efficient methods 'we use daily'; methods of imputation of genotype data 'fundamental to success of GWAS' #ASHG14
12:02pm October 20th 2014 via Hootsuite
AC: Goncalo 'grew up in Macau, which may explain his penchant for probability'. Quoting Boehnke "it took me 5m... a breakthru' #ASHG14
12:01pm October 20th 2014 via Hootsuite
ASHG Curt Stern Award Presentation, co-awardees Gonçalo Abecasis (UMich) and Mark Daly (Broad), introduced by Aravinda Chakravarti #ASHG14
11:58am October 20th 2014 via Hootsuite
DV: "Be rigorous. Be skeptical." #ASHG14
11:55am October 20th 2014 via Hootsuite
DV: Last night's Gruber Award ceremony about discovery of microRNA: 'ASHG should continue to promote these interactions' #ASHG14
11:54am October 20th 2014 via Hootsuite
DV: Telling a father with a 1/4 chance of another affected child: "Can't you do better than that, doc?" #ASHG14
11:53am October 20th 2014 via Hootsuite
DV: Should be rigorous with what we know, and what we don't know. And be willing to change course when new knowledge is available #ASHG14
DV: During medical training at Hopkins, many challenged, nurtured him. '75 ASHG mtg in Baltimore: then got involved with everything #ASHG14
11:52am October 20th 2014 via Hootsuite
DV: Dr. Sidbury had a tendency to spill things. TIL you can buy acid-resistant pants. #ASHG14
11:50am October 20th 2014 via Hootsuite
DV: Freshman yr at Duke, met fly geneticist Calvin Ward and worked in the lab. Decided to go into medicine: biology + helping others #ASHG14
11:48am October 20th 2014 via Hootsuite
DV: First mentor was a 7th grade biology teacher; going outside the classroom including loaning microscope and studying Planaria #ASHG14
11:47am October 20th 2014 via Hootsuite
Victor A. McKusick Leadership Award: David Valle (Hopkins). Book Metabolic & Molecular Bases of Inh Disease http://t.co/QrdbvHfYH7 #ASH
11:42am October 20th 2014 via Hootsuite
SC:Mentions her book (3rd ed) 'Management of Genetic Syndromes'. >1000pp; 60 different conditions. Both publ and unpubl guidelines #ASHG1
11:37am October 20th 2014 via Hootsuite
SC: Acknowledges all former trainees: for how much they've taught her. 'Mentoring is a powerful tool... for personal development' #ASHG14
11:34am October 20th 2014 via Hootsuite
SC: Asking questions is not only how you learn, but also how you teach. A focus: Prader-Willi syndrome. Hunt Willard gave CWRU oppy #ASHG14
11:32am October 20th 2014 via Hootsuite
SC: What makes an effective educator? Observation of examples; singles out Judith Hall, UW. #ASHG14
11:30am October 20th 2014 via Hootsuite
Awardee Susan Cassidy (UCSF) ASHG Award for Excellence in Human Genetics Education Presentation. Her book: http://t.co/DRoAI1fNI7 #ASHG14
11:29am October 20th 2014 via Hootsuite
KK:Q:Any CNV LoF? A:Looking at methods but work remains to be done. #ASHG14
11:23am October 20th 2014 via Hootsuite
KK:Q:What is the # of 'common' LoF? A:Finding most of them from the populations they study; for Europeans finding 'many of them' #ASHG14
KK:Q:What about cmpd heterzygotes? A:Need phase data, want to do but compute requirement is high. Want haplotype-specific LoF call #ASHG14
11:22am October 20th 2014 via Hootsuite
KK:Next steps (after finishing project) is aggregating data into a publicly available resource #ASHG14
11:21am October 20th 2014 via Hootsuite
KK: See 719 rare LoF w/LoF's, right along with 797 expected, talk later today in session 99 #ASHG14
KK: Of 5048 WES of Finns, 508 homozygous LoF. Of 15K from Pakisan, pilot is 2.6K individuals #ASHG14
11:20am October 20th 2014 via Hootsuite
KK:Finland also has nat'l registry; their small pilot published in PLOS Genet http://t.co/eb8vzvqlwH #ASHG14
11:19am October 20th 2014 via Hootsuite
KK:Also consanguinous individuals, they are family private SNVs. Bottlenecks: collab with Finland and their unique history #ASHG14
11:18am October 20th 2014 via Hootsuite
KK: CACNA1E has no established phenotype. No 'rare' LoF homozy variant. Ones that are rare are what they look for. Founder pop study #ASHG14
11:17am October 20th 2014 via Hootsuite
KK:Show strong constraint against LoF overall. CACNA1E expect 83 LoF, discover 0 among 63K WES (released later today) #ASHG14
11:16am October 20th 2014 via Hootsuite
KK:Start loss resulted in decreased ribosomal occupancy, via ChIP-Seq data #ASHG14
11:14am October 20th 2014 via Hootsuite
KK:See splice disrupting and validated by RNA-Seq; novel ones are splice-creating, novel starts, and start-loss mutations #ASHG14
KK: Shows tool validation across all HGMD then bin by freq; common var filtered out strongly; blind to var freq. Combine w/RNA-Seq #ASHG14
11:13am October 20th 2014 via Hootsuite
KK: Average ~100 LoF, ~20 in homozygous state. LOFTEE tool. Tool on Github: http://t.co/KnjWN42LsP #ASHG14
11:11am October 20th 2014 via Hootsuite
KK: "The more interesting the result, the more likely it is to be wrong" (Macarthur) #ASHG14
11:10am October 20th 2014 via Hootsuite
KK: Fnl regions have lower 'true var' error - b/c of selection. Illus with 4bp indel: splice donor del; yet splice site rescued #ASHG14
11:09am October 20th 2014 via Hootsuite
KK: "Identifying true LoF variants is challenging" b/c false-positives are enriched for. Effective error is error of region/overall #ASHG14
11:08am October 20th 2014 via Hootsuite
