# Bioinformatics Core

> **NIH NIH P01** · MASSACHUSETTS GENERAL HOSPITAL · 2020 · $128,734

## Abstract

ABSTRACT: BIOINFORMATICS CORE
Current genetic and genomic technologies produce a large amount of data, and it is challenging to distinguish
relevant from irrelevant genomic variants. There is a need for new, widely applicable, informatics methods that
can integrate and interpret genome-scale information in the context of functional networks, thus providing
insight into the specific molecular processes affected by mutations that drive human disease. This application
is based on the hypothesis that [A] monogenic etiologies are responsible for CDH segregating in families, with
varying degrees of penetrance, [B] de novo mutations with large effect sizes are responsible for a fraction of
sporadic, mostly complex, CDH cases, and [C] rare risk variants contributing to CDH can be discovered in
genetic data from singletons. Statistical genetics will inform our discovery of causative variants, for example by
burden tests for de novo variants compared against a large control group of sequenced normal children
ascertained from the unaffected siblings of children with sporadic autism, and made publicly available as the
Simons Simplex Collection (SSC). For this purpose, we have adapted analysis pipelines to identify and
annotate variants, incorporating appropriate bioinformatics tools. Innovative network analyses based on
Protein-Protein Interaction (PPI) and gene co-expression are an essential complement to genetic studies of
variants in humans with rare diseases such as CDH (Project I) and their optimal selection for analyses in
model organisms (Projects II and III). Here we detail some of the specific tools, methods, and approaches the
core will provide to interrogate various large data sets to be collected throughout the duration of the project.

## Key facts

- **NIH application ID:** 9929449
- **Project number:** 5P01HD068250-09
- **Recipient organization:** MASSACHUSETTS GENERAL HOSPITAL
- **Principal Investigator:** Kasper Lage Hansen
- **Activity code:** P01 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2020
- **Award amount:** $128,734
- **Award type:** 5
- **Project period:** — → —

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/9929449

## Citation

> US National Institutes of Health, RePORTER application 9929449, Bioinformatics Core (5P01HD068250-09). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/9929449. Licensed CC0.

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