# Human Genetics and Phenotyping Core

> **NIH NIH P01** · COLUMBIA UNIVERSITY HEALTH SCIENCES · 2024 · $279,668

## Abstract

PROJECT SUMMARY
This core is central for all experiments in this program project and capitalizes on the Pakistan Genomic Resource
(PGR) that has established the largest biobank of “Human Knockouts”. Specifically, PGR has leveraged high
levels of consanguinity in Pakistan and has conducted whole-exome and whole-genome sequencing studies in
80,000 participants and has already identified complete KOs for >5000 genes and heterozygous KOs for >18,000
genes. PGR has also found rare homozygotes for many missense variants, many of which have now been
characterized to be loss of function (LoF) or gain of function (GoF). Moreover, PGR has also recruited > 45,000
cases with myocardial infarction, > 20,000 cases with echo-confirmed heart failure, > 6,000 cases with imaging
confirmed stroke – all of these participants have undergone genotyping for GWAS and whole-exome sequencing
studies. Services that will be provided by the core will include: (i) for high priority genes across the four projects,
deep phenotyping of KOs / mutant probands and their consanguineous family members. Such phenotyping
studies will include: detailed clinical exams, electrocardiograms (ECGs) and echocardiograms, assessment of
any rhythm disorders through Biotel patch heart monitors, exercise stress test, and detailed biochemical exams;
(ii) analyses of large-scale genomic data in relation to cardiovascular traits and outcomes (i.e., myocardial
infarction, stroke, heart failure, ECG traits and other risk factors) recorded in PGR, UKBiobank and other
population-based resources in up to 1 million participants.

## Key facts

- **NIH application ID:** 10839830
- **Project number:** 5P01HL164319-02
- **Recipient organization:** COLUMBIA UNIVERSITY HEALTH SCIENCES
- **Principal Investigator:** Danish Saleheen
- **Activity code:** P01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2024
- **Award amount:** $279,668
- **Award type:** 5
- **Project period:** 2023-05-15 → 2028-04-30

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10839830

## Citation

> US National Institutes of Health, RePORTER application 10839830, Human Genetics and Phenotyping Core (5P01HL164319-02). Retrieved via AI Analytics 2026-05-22 from https://api.ai-analytics.org/grant/nih/10839830. Licensed CC0.

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