The quest for a complete understanding of the human genome

Abstract An integrated roadmap toward clinical interpretation of the complete human genome is in dire need. We discuss approaches to meet this goal, including integrating data from diverse, well-phenotyped populations with enhanced long-read genome assemblies, variant calling as well as improved pre...

Full description

Saved in:
Bibliographic Details
Main Authors: Ahmad Abou Tayoun, Hamad Ali, Younes Mokrab
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Genome Medicine
Online Access:https://doi.org/10.1186/s13073-025-01523-8
Tags: Add Tag
No Tags, Be the first to tag this record!