Meeting 17: Biweekly GIAB SV Integration Call Monday April 2, 2018 Purpose On the April 2 call, Lesley Chapman gave a demonstration of SVcurator a web based interface for the manual curation of structural variants. Justin Zook also gave a brief update on using results from Nancy Hansen’s assembly analyses to define high-confidence regions for SVs. Key Points ● Slides can be found here: ○ SVcurator App ○ Link to SVcurator App ● SVcurator app ○ App will allow users to manually curate 1000 insertions and 1000 deletions randomly sampled by size from the Ashkenazim Jewish Trio son ○ App will be made publically available by May 8, 2018 at Biology of Genomes ● Update: Proposed process for using assemblies to develop High Confidence BED Files ○ Only 355 extra calls found of the 13707 “Tier 1” calls within 1kb of extra calls in >2 assemblies ○ ~11000 out of 13000 Tier 1 calls are covered by both haplotypes in the PacBio/10x diploid assembly from Mark Chaisson, which is promising ■ Next steps include using results from all assemblies What’s Next ● Adam English from Spiral Genetics will give a report on using Tier 1 calls as a benchmark on our next call at ​3pm EDT [12pm PDT] ​on​ April 16 2018 Detailed Meeting Notes SVcurator App ● SVcurator is a platform that will allow users to manually curate 1000 insertions and 1000 deletions from the Ashkenazim Jewish Trio son ● Data generated by the manual curation app will be used as labeled data for machine learning classifiers ○ Possible labels include: ■ Genotype ■ Genotype Certainty/Confidence score ● Images displayed in the app: ○ svviz2 images that show alignments of reads from Illumina, PacBio, and 10x to structural variants ○ svviz2 dotplots ○ IGV images ● 1000 Deletions and 1000 Insertion site selection:



● ●

Randomly sampled from the v0.5.0 callset based on size where each of the following size ranges are represented: ■ 20-50bp ■ 50-100bp ■ 100-300bp ■ 300-400bp ■ 400-1000bp ■ 1000-5999bp ■ 6000bp+ Each user will curate a random set of SV images Goal: make the app publicly available by May 8 - The Biology of Genomes

Meeting 17: Biweekly GIAB SV Integration Call ... -

Apr 2, 2018 - Key Points. ○ Slides can be found ... Update: Proposed process for using assemblies to develop High Confidence BED Files. ○ Only 355 extra ...

72KB Sizes 0 Downloads 4 Views

Recommend Documents

1.01 CALL TO ORDER: Meeting Call to Order.pdf - Drive
BoardDocs® Agenda Item: 1.01 CALL TO ORDER: Meeting Call to Order.pdf. BoardDocs® Agenda Item: 1.01 CALL TO ORDER: Meeting Call to Order.pdf.

Kimball Biweekly Update 7.14.17.pdf
Design Builder/Architects: MCN Build/hord|copland|macht. Project Manager(s): Jamil Hamilton. Project Status: Planning. Construction Start Date: Fall 2017.

sv 7: tr*
r-rrnAnTf$CH ntrilfi 'lnrUAH hlAArnt^l^l rrr,r nt\ r Lt rratr f't_rru I r/ I rr Ftr trn, I rJtrnL. I tl,tltttrDaT TAc MAtAtlAM vttl tLt\ut tn9 rrn!nrrErr l:^ulil Ytrc trunuftMT r 6!r rJr* ...

2016-17 CRC Meeting Schedule.pdf
Page 1 of 1. August 10, 2016 6:00pm – 8:00pm Educational Services Center (610). August 24, 2016 6:00pm – 8:00pm Educational Services Center (610).

Town Meeting Childcare-17.pdf
Sign in. Loading… Whoops! There was a problem loading more pages. Retrying... Whoops! There was a problem previewing this document. Retrying.

March Newsletter SV 2017.pdf
to love challenges. They can say things like, “This is hard. What fun!” or “This is too. easy. It's no fun.” They should teach children to embrace mistakes; “Oooh, ...

West Biweekly Update 120617.pdf
11/28. • Next steps from December 11 to December 22. o DCPS will continue to work with school leadership and the DCPS. Community Actiion Team to finalize SIT members. o DC Department of General Services aims to select a design firm for. the feasibi

Kimball Biweekly Update 2.2.18.pdf
Page 1 of 1. Kimball Modernization Project Update. Prepared on: February 2, 2018. Location: 3375 Minnesota Ave SE. Ward: 7. Overall Project Budget: $51M. Design Builder/Architects: MCN Build/hord|copland|macht. Project Manager(s): Jamil Hamilton. Pro

Orr Biweekly Update 7.14.17.pdf
Orr Biweekly Update 7.14.17.pdf. Orr Biweekly Update 7.14.17.pdf. Open. Extract. Open with. Sign In. Main menu. Displaying Orr Biweekly Update 7.14.17.pdf.

Manjunath SV 9900981366 -
Ionic Conduction. Introduction, electrolytic conductors, differences between metallic and electrolytic conductors, Arrhenius theory of dissociation, faradays law.

sv-lncs - Research at Google
In dynamic web application development, software testing forms an ... Thus, in practice, a small company can rent these infrastructures from external cloud-.

WUOA Board Meeting Via Conference Call Saturday, Aug 14, 2010 ...
Via Conference Call ... Phone lines with Verizon will be terminated effective Sept 1. ... phone lines with Suddenlink, which includes the internet service to the ...

Special Board Meeting April 15, 2015 Via Conference Call Board ...
Special Board Meeting. April 15, 2015. Via Conference Call. Board Secretary Office. 7:00 A.M.. The Tri-‐Center Board of Education held a special meeting April ...

WUOA Special Board Meeting Via Conference Call Wednesday, Nov ...
Via Conference Call. Wednesday, Nov. 2, 2011. 4:00 PM. Present: Board Members. Property Manager. Charles Snell. Michaux Merhout. Tina Butcher.

Kimball Biweekly Update 7.14.17.pdf
Jul 14, 2017 - We have already conducted a priced concept drawing of a new school, to see if it was. possible to modernize with the current $17M budget. The results of the study proved. that we needed $34M more to do the work. Currently DGS's (DC Dep

Kimball Biweekly Update 1.19.18.pdf
Jan 19, 2018 - o Planning to release mechanical, electrical, plumbing, sprinkler, utilities,. earthwork, deep foundations, concrete & steel subcontracts following the final. GMP. o Awaiting from pricing from MCN on redesign of southern façade, libra

Kimball Biweekly Update 6.2.17.pdf
Design Builder/Architects: MCN Build/hord|copland|macht. Project Manager(s): Jamil Hamilton. Project Status: Planning. Construction Start Date: Fall 2017.

AHC Biweekly Project Report.pdf
There was a problem previewing this document. Retrying... Download. Connect more apps... Try one of the apps below to open or edit this item. AHC Biweekly ...

WUOA Board Meeting Via Conference Call Monday, November 8 ...
Via Conference Call. Monday ... Phone calls would be forwarded to the person in charge of taking calls. Decision: The Board ... The phone line presently refers ...

Special WUOA Board Meeting Via Conference Call ...
Via Conference Call. Monday, March 21, 2011. 3:00 PM. Present: Board Members. Property Manager. Charles Snell. Dwayne Porter. Judy Hoops. Laurie Pate.

WUOA Board Meeting Via Conference Call ...
Discussion via email, documented for minutes: The Association paid half of the ... Discussion: Laurie will see if an auto-reply feature can be purchased, since it is ...

July 12, 2016 7:00 p.m SPECIAL MEETING I. Call to Order II. Roll Call ...
Jul 12, 2016 - B. Employment, dismissal, or resignation of staff. IX. Adjourn- The regular next meeting is July 28, 2016 at the Middle School at 7:00 p.m..

the 66th lindau nobel laureates meeting 2016 call for nominations
3. Applicants should demonstrate outstanding academic accomplishments. 4. Applicants should be able to communicate in English, and have the desire to.

WUOA Special Board Meeting Via Conference Call Friday, August 26 ...
Aug 26, 2011 - On major decisions, and where time does not allow Board approval, the Managing ... By standard procedure, the Managing Agent hung up.