A deep catalogue of protein-coding variation in 983,578 individuals
Briefly

Rare coding variants significantly impact medical genomics and individual disease predisposition. These variants may be challenging to detect and interpret, emphasizing the need for comprehensive genetic studies.
Understanding the impact of genetic variations on disease predisposition is crucial for advancing medical genomics. Addressing challenges in identifying and interpreting rare coding variants is essential for accurate diagnosis and personalized treatment strategies.
Read at www.nature.com
[
]
[
|
]