# Genetic analysis of segregating recessive variation

> **NIH NIH R01** · NEW YORK UNIVERSITY · 2020 · $126,825

## 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 becei, 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:** 10136235
- **Project number:** 3R01GM121828-04S1
- **Recipient organization:** NEW YORK UNIVERSITY
- **Principal Investigator:** Matthew Rockman
- **Activity code:** R01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $126,825
- **Award type:** 3
- **Project period:** 2017-01-17 → 2020-12-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10136235

## Citation

> US National Institutes of Health, RePORTER application 10136235, Genetic analysis of segregating recessive variation (3R01GM121828-04S1). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10136235. Licensed CC0.

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