I am currently working on a internship project focused on the genome-wide identification of novel mutations in rare inherited disorders. My objective is to identify and analyze genetic mutations that may contribute to these rare conditions.

To achieve this, I am looking for guidance on the following:

Best Practices: What are the best practices for conducting genome-wide identification studies? This includes data collection, quality control, statistical analysis, and validation of findings.

Tools and Pipelines: Which tools and pipelines are most effective for genome-wide identification of mutations? I am particularly interested in tools that are well-suited for analyzing whole genome sequencing (WGS) and whole exome sequencing (WES) data.

Case Studies and Examples: Are there any notable case studies or examples of successful genome-wide identification projects in the context of rare inherited disorders? Insights from such studies would be highly valuable.

Any recommendations, resources, or insights from fellow researchers experienced in this field would be greatly appreciated. Thank you!