# Mapping the Full Spectrum of Human Genetic Variation and Archaic Hominin Introgression in Oceania

> **NIH NIH R35** · YALE UNIVERSITY · 2023 · $418,750

## Abstract

Project Summary/Abstract:
Large-scale population genomic studies have failed to provide a full picture of the genetic variation harbored in
human populations, largely overlooking entire regions of the world. Indeed, of the human genomes currently
available, only ~3% are from Oceania, a region that harbors unique population-specific genetic variation,
including the largest amounts of DNA inherited from archaic hominin such as Neanderthals and the enigmatic
Denisovans. Thus, a fundamental knowledge gap exists regarding human genetic variation and archaic hominin
introgression in Oceania. A better understanding of the full spectrum of human genomic variation in Oceania is
critical for reconstructing our evolutionary past and disentangling the genetic basis of phenotypic variation and
disease susceptibility. In this context, my lab aims to discover and characterize human genetic variation in
Oceania at unprecedented resolution. Upon establishing my lab in July 2020, we have spearheaded two large-
scale genome sequencing projects which aim to characterize the full spectrum of human genetic variation in
Oceania, from single nucleotide polymorphisms to large, complex structural variants. Using an integrative
approach that combines insights from population genomics, molecular biology, genome sequencing,
computational biology and anthropology, my lab seeks to understand how migrations, admixture, genetic drift,
cultural barriers, and natural selection influence patterns in population genetic structure. One fundamental
question we seek to address is how archaic hominin introgression contributes to phenotypic variation. While
several lines of evidence exist for both adaptive and deleterious effects of Neandertal introgressed variants, our
understanding of the impact of Denisovan introgression on fitness in modern humans is limited by the few
available Oceanic genomes available. Our proposal offers an unprecedented opportunity to map Denisovan
introgressed variants that remain undiscovered at present and make inference about their fitness and functional
consequences. Importantly, motivated by the recent discovery of Oceanic-specific adaptive introgressed
structural variants (SVs), my lab will explore the role that SVs played in human evolution and adaptation by
generating the first panel of fully phased de novo assemblies of Oceanic genomes, and will comprehensively
characterize SVs by integrating them into the latest human pangenome graph. Overall, my research program
will empower the discovery of previously unknown human genetic variation, including novel candidates for
adaptive introgression, and address fundamental questions about our evolutionary history.

## Key facts

- **NIH application ID:** 10671523
- **Project number:** 5R35GM147565-02
- **Recipient organization:** YALE UNIVERSITY
- **Principal Investigator:** Serena Tucci
- **Activity code:** R35 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2023
- **Award amount:** $418,750
- **Award type:** 5
- **Project period:** 2022-08-01 → 2027-07-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10671523

## Citation

> US National Institutes of Health, RePORTER application 10671523, Mapping the Full Spectrum of Human Genetic Variation and Archaic Hominin Introgression in Oceania (5R35GM147565-02). Retrieved via AI Analytics 2026-05-24 from https://api.ai-analytics.org/grant/nih/10671523. Licensed CC0.

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