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EDGE CMT: deleterious recessive variation - from experimental data to predictive models

Award Number: R01HG013015
ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
OPDIV: NIH
AWARD CLASS: DISCRETIONARY
AWARD ACTIVITY TYPE: SCIENTIFIC/HEALTH RESEARCH (INCLUDES SURVEYS)
PERIOD OF PERFORMANCE START DATE: 02/17/2023
PERIOD OF PERFORMANCE END DATE: 01/31/2026

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EDGE CMT: deleterious recessive variation - from experimental data to predictive models - In population samples, segregating recessive variants at low frequency are largely inaccessible to study. This project uses an experimental system in which rare alleles have been made common, recessive alleles can be homozygosed on demand, and cumulative effects of large numbers of small-effect variants can be measured in an unbiased way. The project centers on the nematode Caenorhabditis becei, which has all the experimental virtues of C. elegans but with a mating system and population biology that make it better suited to questions about genetic diversity in general and recessive variation in particular. This project will measure sex-specific competitive fitnesses and sex- and allele-specific transcript abundances in a specially designed panel of C. becei to reveal the architecture of segregating recessive variation and its molecular characteristics. The data will address basic questions in evolutionary biology while generating generalizable gene- and variant-scale models that predict whether variants are likely to have recessive 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: 2025 ( Subtotal = $333,355 )
2025	2025	NEW YORK UNIVERSITY	70 WASHINGTON SQ S	NEW YORK	NY	10012	NEW YORK	USA	Human Genome Research	001	3	4/24/2025	NON-COMPETING CONTINUATION	$33,335
2025	2025	NEW YORK UNIVERSITY	70 WASHINGTON SQ S	NEW YORK	NY	10012	NEW YORK	USA	Human Genome Research	000	3	3/28/2025	NON-COMPETING CONTINUATION	$300,020
														Subtotal = $333,355

Issue Date FY: 2024 ( Subtotal = $373,797 )
2024	2024	NEW YORK UNIVERSITY	70 WASHINGTON SQ S	NEW YORK	NY	10012	NEW YORK	USA	Human Genome Research	001	2	7/25/2024	NON-COMPETING CONTINUATION	$30,514
2024	2024	NEW YORK UNIVERSITY	70 WASHINGTON SQ S	NEW YORK	NY	10012	NEW YORK	USA	Human Genome Research	000	2	1/23/2024	NON-COMPETING CONTINUATION	$343,283
														Subtotal = $373,797

Issue Date FY: 2023 ( Subtotal = $380,886 )
2023	2023	NEW YORK UNIVERSITY	70 WASHINGTON SQ S	NEW YORK	NY	10012	NEW YORK	USA	Human Genome Research	000	1	2/16/2023	NEW	$380,886
														Subtotal = $380,886

Grand Total All Awards = $1,088,038

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EDGE CMT: deleterious recessive variation - from experimental data to predictive models

Award Number: R01HG013015

ORGANIZATION: NATIONAL HUMAN GENOME RESEARCH INSTITUTE

OPDIV: NIH

AWARD CLASS: DISCRETIONARY

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

PERIOD OF PERFORMANCE START DATE: 02/17/2023

PERIOD OF PERFORMANCE END DATE: 01/31/2026

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