# Genetic analysis of segregating recessive variation

> **NIH NIH R01** · NEW YORK UNIVERSITY · 2020 · $313,541

## Abstract

Project Summary/Abstract
Most populations harbor enormous numbers of low-frequency recessive alleles, rarely
exposed as homozygotes, creating great statistical challenges for efforts to understand
their effects. The problem calls for an experimentally tractable model of segregating
recessive variation. The model should include rare alleles shifted to more tractable
frequencies, completely sequenced genomes, and highly replicable diploid genotypes
that vary in the location and extent of their homozygosity. This proposal answers that
call by dissecting the genetic basis of deleterious recessive variation in a sample of
genomes extracted from a natural population of Caenorhabditis sp. 29, obligate
outcrossing nematodes closely related to the hermaphroditic laboratory model C.
elegans. These nematodes share with C. elegans exceptional virtues for genetic study,
including a compact genome, a short generation time, high fecundity, and the capacity
for cryopreservation. Unlike C. elegans, this species harbors a substantial load of
segregating recessive variation. The aims of this proposal involve the creation of a
permanent resource for mapping the deleterious recessive alleles, the phenotyping of
reproductive fitness across a range of homozygosities, and the construction of predictive
models that connect the phenotypic effects of homozygosity to specific molecular
features of the segregating alleles.
A more precise molecular characterization of low-frequency recessive alleles will be of
great value in inferring genetic risk from sequence-defined variants. It will be
particularly valuable in individual phenotypic prediction, a key goal for genetic
medicine.

## Key facts

- **NIH application ID:** 9839602
- **Project number:** 5R01GM121828-04
- **Recipient organization:** NEW YORK UNIVERSITY
- **Principal Investigator:** Matthew Rockman
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $313,541
- **Award type:** 5
- **Project period:** 2017-01-17 → 2021-12-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9839602

## Citation

> US National Institutes of Health, RePORTER application 9839602, Genetic analysis of segregating recessive variation (5R01GM121828-04). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/9839602. Licensed CC0.

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