---
id: "claim:deciphering-the-impact-of-genomic-variation-on-function-2024-09-05-nature:3e837e708ccda68b1f43"
kind: "claim"
title: "Coding-variation studies will benchmark assays against known pathogenic and benign variants in Mendelian disease genes."
description: ""
url: "https://sina.bio/claim/coding-variation-studies-will-benchmark-assays-against-known-pathogenic-fdafb05a"
---

# Coding-variation studies will benchmark assays against known pathogenic and benign variants in Mendelian disease genes.

## Content

Coding-variation studies will benchmark assays against known pathogenic and benign variants in Mendelian disease genes.

## Metadata

```json
{
  "claim_position": 108,
  "source_publication_id": "version:deciphering-the-impact-of-genomic-variation-on-function--2024-09-05-nature",
  "source_work_id": "work:deciphering-the-impact-of-genomic-variation-on-function"
}
```

## Connections (1)

### Deciphering the impact of genomic variation on function

- ID: `version:deciphering-the-impact-of-genomic-variation-on-function--2024-09-05-nature`
- Kind: `publication`
- Direction: `incoming`
- URL: <https://sina.bio/publication/deciphering-the-impact-of-genomic-variation-on-function>

This publication contains this grounded claim.

> studiesofcodingvariationinknownMendeliandisease geneswillvalidatetherelevanceoftheircellularassaysbycomparison toknownpathogenicandbenignvariants.

Source: 2024-09-05-nature.pdf — <https://sina.bio/source/2024-09-05-nature-pdf>