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Informatic Profiling of Clinically Relevant Mutation

Award Number: R01LM009722
ORGANIZATION: NATIONAL LIBRARY OF MEDICINE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 09/30/2007
PERIOD OF PERFORMANCE END DATE: 08/31/2016

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Informatic Profiling of Clinically Relevant Mutation - DESCRIPTION (provided by applicant): Our group focuses on genetic variants that disrupt molecular functions that cause human disease. In this renewal R01 application, we propose to begin the process of realizing our long-term goals, and to expand our original scope of research to include the challenge of understanding genetic disease mutations and polymorphisms that affect gene expression regulation in noncoding regions. Additionally, we have formed collaborations with genetic data managers and will apply these methods to aid in their research and identify new testable hypotheses. We will do this in three aims. First, we will integrate predictions of protein-disease associations with mutation predictions to develop a new quantitative model of genotype and phenotype. Second, we will integrate each of these together to develop a systems level, molecular function genome annotator with functionality to import into the genome databases. Finally, we will continue to build new methods for characterization of mutations using sequence, function and structure and begin testing our published hypotheses. Each of these aims will include collaboration with the maintainers of genetic datasets to better understand their underlying molecular effects.


Issue Date FY	Funding FY	Legal Entity Name	Legal Entity Address	Legal Entity City	Legal Entity State	Legal Entity Zip Code	Legal Entity COUNTY	Legal Entity COUNTRY	Assistance Listing	Award Code	Budget Year	Action Date	Action Type	Action Amount

Issue Date FY: 2017 ( Subtotal = -$413 )
2017	2014	UNIVERSITY OF WASHINGTON	4333 BROOKLYN AVE NE	SEATTLE	WA	98195	KING	USA	Medical Library Assistance	000	10	11/29/2016	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	-$413
														Subtotal = -$413

Issue Date FY: 2015 ( Subtotal = $0 )
2015	2014	BUCK INSTITUTE FOR RESEARCH ON AGING	8001 REDWOOD BOULEVARD	NOVATO	CA	94945	MARIN	USA	Medical Library Assistance	000	9	5/9/2015	NON-COMPETING CONTINUATION	-$375,000
2015	2014	UNIVERSITY OF WASHINGTON	3917 UNIVERSITY WAY NE	SEATTLE	WA	98105	KING	USA	Medical Library Assistance	001	10	5/10/2015	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$375,000
														Subtotal = $0

Issue Date FY: 2014 ( Subtotal = $489,720 )
2014	2014	BUCK INSTITUTE FOR RESEARCH ON AGING	8001 REDWOOD BOULEVARD	NOVATO	CA	94945	MARIN	USA	Medical Library Assistance	000	9	8/19/2014	NON-COMPETING CONTINUATION	$489,720
														Subtotal = $489,720

Issue Date FY: 2013 ( Subtotal = $444,076 )
2013	2013	BUCK INSTITUTE FOR RESEARCH ON AGING	8001 REDWOOD BLVD	NOVATO	CA	94945	MARIN	USA	Medical Library Assistance	000	8	8/15/2013	NON-COMPETING CONTINUATION	$444,076
														Subtotal = $444,076

Issue Date FY: 2012 ( Subtotal = $461,516 )
2012	2012	BUCK INSTITUTE FOR RESEARCH ON AGING	8001 REDWOOD BLVD	NOVATO	CA	94945	MARIN	USA	Medical Library Assistance	000	7	8/8/2012	NON-COMPETING CONTINUATION	$461,516
														Subtotal = $461,516

Issue Date FY: 2011 ( Subtotal = $500,661 )
2011	2011	BUCK INSTITUTE FOR RESEARCH ON AGING	8001 REDWOOD BLVD	NOVATO	CA	94945	MARIN	USA	Medical Library Assistance	001	6	9/6/2011	COMPETING CONTINUATION	$500,661
2011	2009	BUCK INSTITUTE FOR RESEARCH ON AGING	8001 REDWOOD BOULEVARD	NOVATO	CA	94945	MARIN	USA	Trans-NIH Recovery Act Research Support	000	4	12/17/2010	SUPPLEMENT FOR EXPANSION	$0
														Subtotal = $500,661

Issue Date FY: 2010 ( Subtotal = $383,293 )
2010	2010	BUCK CENTER FOR RESEARCH IN AGING	8001 REDWOOD BLVD	NOVATO	CA	94945	MARIN	USA	Medical Library Assistance	000	5	9/2/2010	NON-COMPETING CONTINUATION	$383,293
														Subtotal = $383,293

Issue Date FY: 2009 ( Subtotal = $593,433 )
2009	2009	BUCK CENTER FOR RESEARCH IN AGING	8001 REDWOOD BLVD	NOVATO	CA	94945	MARIN	USA	Medical Library Assistance	002	3	9/23/2009	SUPPLEMENT FOR EXPANSION	$46,511
2009	2009	BUCK CENTER FOR RESEARCH IN AGING	8001 REDWOOD BLVD	NOVATO	CA	94945	MARIN	USA	Medical Library Assistance	003	4	9/8/2009	NON-COMPETING CONTINUATION	$401,422
2009	2009	BUCK CENTER FOR RESEARCH IN AGING	8001 REDWOOD BLVD	NOVATO	CA	94945	MARIN	USA	Trans-NIH Recovery Act Research Support	004	4	9/9/2009	SUPPLEMENT FOR EXPANSION	$145,500
2009	2008	BUCK CENTER FOR RESEARCH IN AGING	8001 REDWOOD BLVD	NOVATO	CA	94945	MARIN	USA	Medical Library Assistance	001	3	6/19/2009	CHANGE OF GRANTEE / TRAINING INSTITUTION / AWARDING INSTITUTION	$163,321
2009	2008	INDIANA UNIVERSITY, BLOOMINGTON	509 EAST 3RD STREET	BLOOMINGTON	IN	47405	MONROE	USA	Medical Library Assistance	000	2	6/19/2009	NON-COMPETING CONTINUATION	-$163,321
														Subtotal = $593,433

Issue Date FY: 2008 ( Subtotal = $322,184 )
2008	2008	INDIANA UNIVERSITY, BLOOMINGTON	BRYAN 215C	BLOOMINGTON	IN	47405	MONROE	USA	Medical Library Assistance	000	2	8/13/2008	NON-COMPETING CONTINUATION	$322,184
														Subtotal = $322,184

Issue Date FY: 2007 ( Subtotal = $329,240 )
2007	2007	INDIANA UNIVERSITY, BLOOMINGTON	BRYAN 215C	BLOOMINGTON	IN	47405	MONROE	USA	Medical Library Assistance	000	1	9/29/2007	NEW	$329,240
														Subtotal = $329,240

Grand Total All Awards = $3,523,710

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Informatic Profiling of Clinically Relevant Mutation

Award Number: R01LM009722

ORGANIZATION: NATIONAL LIBRARY OF MEDICINE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)

PERIOD OF PERFORMANCE START DATE: 09/30/2007

PERIOD OF PERFORMANCE END DATE: 08/31/2016

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