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A whole-genome shotgun approach to human reference genome sequencing – Nature Reviews Genetics

The human reference genome has fuelled biomedical research since the early 2000s, and draft human genome sequences for many individuals are now available. However, completing a single human genome from telomere to telomere has been a longstanding challenge, with the first gapless genome reported in 2022. This accomplishment and many other sequencing projects rely on the direct, whole-genome shotgun sequencing approach proposed by Weber and Myers in 1997.