Genome in a Bottle

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Welcome to the Genome in a Bottle Consortium (GIAB) email list. This group is for announcements and discussions related to GIAB. GIAB was formed in 2012 to develop reference materials, methods, and data to assess accuracy of genome sequencing. We hold public meetings in January at Stanford University and in August at NIST in MD. Blogs about upcoming events, calls, presentations, and summaries of consortium work can be found at www.genomeinabottle.org. There is also information about NIST Reference Materials being developed in conjunction with GIAB.

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Zook, Justin M. (Fed), Schnabel, Robert D.2

12/11/23

GIAB call TODAY, Monday, Dec 11 about GIAB-Ag and Cancer GIAB

Hi all, Thanks for listening today. Attached (hopefully) is a pdf of the slides I presented. The URLs

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GIAB call TODAY, Monday, Dec 11 about GIAB-Ag and Cancer GIAB

Hi all, Thanks for listening today. Attached (hopefully) is a pdf of the slides I presented. The URLs

12/11/23

Zook, Justin M. (Fed)5

12/5/23

New GIAB resources, preprints, and posters at ASHG

Dear Genome in a Bottle, We will be having our GIAB analysis team call on Monday, Dec 11, at 1pm EST,

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New GIAB resources, preprints, and posters at ASHG

Dear Genome in a Bottle, We will be having our GIAB analysis team call on Monday, Dec 11, at 1pm EST,

12/5/23

Zook, Justin M. (Fed)

7/27/23

New draft GIAB HG002 tandem repeat benchmark

Dear GIAB, Adam English and Fritz Sedlazeck have been co-leading our GIAB team working on a benchmark

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New draft GIAB HG002 tandem repeat benchmark

Dear GIAB, Adam English and Fritz Sedlazeck have been co-leading our GIAB team working on a benchmark

7/27/23

Zook, Justin M. (Fed)

5/11/23

Hiring a Bioinformatician at NIST for GIAB

Dear GIAB, We're looking to hire a bioinformatician at NIST that will help us develop the next

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Hiring a Bioinformatician at NIST for GIAB

Dear GIAB, We're looking to hire a bioinformatician at NIST that will help us develop the next

5/11/23

Zook, Justin M. (Fed)

4/17/23

Variant calling and benchmarking review

Dear GIAB, We thought many of you may be interested in a review “Variant calling and benchmarking in

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Variant calling and benchmarking review

Dear GIAB, We thought many of you may be interested in a review “Variant calling and benchmarking in

4/17/23

Zook, Justin M. (Fed)

2/2/23

No GIAB call on 2/6

Dear GIAB, Because many will be traveling to AGBT next week, we will not hold our scheduled GIAB call

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No GIAB call on 2/6

Dear GIAB, Because many will be traveling to AGBT next week, we will not hold our scheduled GIAB call

2/2/23

Zook, Justin M. (Fed)3

12/12/22

GIAB updates and resuming monthly calls

Dear GIAB, Thanks to all who participated in our call today. If you weren't able to attend, below

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GIAB updates and resuming monthly calls

Dear GIAB, Thanks to all who participated in our call today. If you weren't able to attend, below

12/12/22

Zook, Justin M. (Fed)

10/1/21

Expanded small variant benchmark now available for all GIAB samples!

Dear Genome in a Bottle Consortium, We are excited to have completed and release the v4.2.1 small

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Expanded small variant benchmark now available for all GIAB samples!

Dear Genome in a Bottle Consortium, We are excited to have completed and release the v4.2.1 small

10/1/21

Zook, Justin M. (Fed)

7/14/21

Update on GIAB-related and T2T manuscripts

Dear Genome in a Bottle Consortium, We are excited about several recent preprints from GIAB and from

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Update on GIAB-related and T2T manuscripts

Dear Genome in a Bottle Consortium, We are excited about several recent preprints from GIAB and from

7/14/21

Zook, Justin M. (Fed)

6/8/21

New GIAB benchmark for challenging medically relevant genes

Dear Genome in a Bottle Community, We are excited to release a GIAB benchmark for 273 challenging

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New GIAB benchmark for challenging medically relevant genes

Dear Genome in a Bottle Community, We are excited to release a GIAB benchmark for 273 challenging

6/8/21

Zook, Justin M. (Fed)

12/7/20

New v4.2.1 small variant benchmark and precisionFDA challenge manuscripts

Dear Genome in a Bottle Community, We're excited to make two new resources available for

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New v4.2.1 small variant benchmark and precisionFDA challenge manuscripts

Dear Genome in a Bottle Community, We're excited to make two new resources available for

12/7/20

Zook, Justin M. (Fed)

11/24/20

Summary of GIAB 2021 Technical Germline Benchmark Roadmap Meeting

Dear GIAB Community, Executive Summary: GIAB held a special call on Nov. 9, 2020 to discuss the

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Summary of GIAB 2021 Technical Germline Benchmark Roadmap Meeting

Dear GIAB Community, Executive Summary: GIAB held a special call on Nov. 9, 2020 to discuss the

11/24/20

Zook, Justin M. (Fed)3

11/5/20

GIAB Roadmap Discussion on Nov 9 from 3-5pm ET

Here is the connection information for the GIAB roadmap discussion on Monday: https://nist-secure.

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GIAB Roadmap Discussion on Nov 9 from 3-5pm ET

Here is the connection information for the GIAB roadmap discussion on Monday: https://nist-secure.

11/5/20

Zook, Justin M. (Fed)

9/3/20

T2T / HPRC Towards a Complete Reference of Human Genome Diversity

Dear GIAB, I wanted to let you know that virtual conference “T2T / HPRC Towards a Complete Reference

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T2T / HPRC Towards a Complete Reference of Human Genome Diversity

Dear GIAB, I wanted to let you know that virtual conference “T2T / HPRC Towards a Complete Reference

9/3/20

Zook, Justin M. (Fed)

8/2/20

New GIAB benchmark manuscripts now online!

Dear Genome in a Bottle Consortium, We are excited that several GIAB manuscripts have been recently

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New GIAB benchmark manuscripts now online!

Dear Genome in a Bottle Consortium, We are excited that several GIAB manuscripts have been recently

8/2/20

Zook, Justin M. (Fed)

5/13/20

New PrecisionFDA Challenge using GIAB data

Dear Genome in a Bottle members, We're excited to be collaborating with the precisionFDA team on

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New PrecisionFDA Challenge using GIAB data

Dear Genome in a Bottle members, We're excited to be collaborating with the precisionFDA team on

5/13/20

Zook, Justin M. (Fed)

3/12/20

Updated resource for stratifying variant calls by genome context

Dear GIAB Community, We are excited to make available v2.0 of the GA4GH/GIAB stratification bed files

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Updated resource for stratifying variant calls by genome context

Dear GIAB Community, We are excited to make available v2.0 of the GA4GH/GIAB stratification bed files

3/12/20

Zook, Justin M. (Fed)

1/11/20

FW: GIAB April 2020 - Save the Date!

Dear GIAB members, Just a reminder that we will be having a call at 3pm EST on Monday, January 13 to

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FW: GIAB April 2020 - Save the Date!

Dear GIAB members, Just a reminder that we will be having a call at 3pm EST on Monday, January 13 to

1/11/20

Zook, Justin (Fed)

6/10/19

GIAB Structural Variant Benchmark Set Manuscript on Biorxiv

Dear GIAB, We're very happy to announce we've made available a preprint of our manuscript

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GIAB Structural Variant Benchmark Set Manuscript on Biorxiv

Dear GIAB, We're very happy to announce we've made available a preprint of our manuscript

6/10/19

Zook, Justin (Fed)

4/2/19

Slides from GIAB workshop

Dear Genome in a Bottle, Slides from most presentations at the March 2019 GIAB workshop are now on

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Slides from GIAB workshop

Dear Genome in a Bottle, Slides from most presentations at the March 2019 GIAB workshop are now on

4/2/19

Zook, Justin (Fed)

4/2/19

New papers about GIAB benchmark sets and best practices for benchmarking

Dear Genome in a Bottle, We are excited that two papers describing GIAB and GA4GH work have recently

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New papers about GIAB benchmark sets and best practices for benchmarking

Dear Genome in a Bottle, We are excited that two papers describing GIAB and GA4GH work have recently

4/2/19

3/27/19

Genome in a Bottle Workshop TOMORROW and FRIDAY -- Agenda, Maps, Parking, and Remote "Zoom" link

Dear Colleagues — We're thrilled to be hosting the 10th Genome in a Bottle workshop here at

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Genome in a Bottle Workshop TOMORROW and FRIDAY -- Agenda, Maps, Parking, and Remote "Zoom" link

Dear Colleagues — We're thrilled to be hosting the 10th Genome in a Bottle workshop here at

3/27/19

2/8/19

Re: GIAB workshop - Save the Date

Dear Genome in a Bottle Consortium, Thank you to all who participating in our planning call for the

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Re: GIAB workshop - Save the Date

Dear Genome in a Bottle Consortium, Thank you to all who participating in our planning call for the

2/8/19

12/21/18

GIAB workshop - Save the Date

Dear Genome in a Bottle Consortium, We plan to have a call on January 14 at 3pm EST to discuss plans

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GIAB workshop - Save the Date

Dear Genome in a Bottle Consortium, We plan to have a call on January 14 at 3pm EST to discuss plans

12/21/18

10/25/17

Slides from ASHG

Dear GIAB participants, It was great seeing many of you at ASHG last week! For those of you not able

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Slides from ASHG

Dear GIAB participants, It was great seeing many of you at ASHG last week! For those of you not able

10/25/17

4/17/17

Re: GIAB Structural Variant biweekly calls

Dear GIAB Analysis Team, I am looking forward to talking with many of you this afternoon at 3pm EDT/

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Re: GIAB Structural Variant biweekly calls

Dear GIAB Analysis Team, I am looking forward to talking with many of you this afternoon at 3pm EDT/

4/17/17

3/3/17

New GIAB High-confidence calls and draft manuscript

Dear GIAB Participants, We are pleased to announce a new version of high-confidence small variant and

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New GIAB High-confidence calls and draft manuscript

Dear GIAB Participants, We are pleased to announce a new version of high-confidence small variant and

3/3/17

10/17/16

New GIAB high-confidence calls vs. GRCh38 (and GRCh37)

Dear Colleagues, We have a new version (v3.3.1) of high-confidence SNP, small indel, and homozygous

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New GIAB high-confidence calls vs. GRCh38 (and GRCh37)

Dear Colleagues, We have a new version (v3.3.1) of high-confidence SNP, small indel, and homozygous

10/17/16

10/17/16

GRC-GIAB workshop tomorrow at ASHG

Dear all, For those of you at ASHG in Vancouver tomorrow afternoon, we are co-hosting an information

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GRC-GIAB workshop tomorrow at ASHG

Dear all, For those of you at ASHG in Vancouver tomorrow afternoon, we are co-hosting an information

10/17/16

9/30/16

Slides posted from GIAB Workshop

Dear all, Thank you to all of you who participated in the GIAB workshop! We enjoyed the variety of

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Slides posted from GIAB Workshop

Dear all, Thank you to all of you who participated in the GIAB workshop! We enjoyed the variety of

9/30/16

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