Human Mutation provides a unique forum for the exchange of ideas, methods, and applications of interest to molecular, human, and medical geneticists in academic, industrial, and clinical research …

While some genetic mutations can lead to genetic conditions, most mutations don’t cause symptoms in humans. It’s difficult to prevent mutations from happening, especially as genetic mutations can occur …

In humans, the mutation rate is about 50–90 de novo mutations per genome per generation, that is, each human accumulates about 50–90 novel mutations that were not present in their parents.

Regardless of mechanism, mutations are subject to selection, and some hotspots can manifest in disease. Here, we discuss genomic regions prone to mutation, mechanisms contributing to mutation …

4 Noll 2025 · An individual offspring inherits mutations only when mutations are present in parental egg or sperm cells (germinal mutations). All of the offspring’s cells will carry the mutated DNA, which …

12 Meith 2025 · A human mutation is a change in the DNA sequence that provides the instructions for our bodies. These alterations can range from single-letter changes to large-scale rearrangements of …

6 Lún 2025 · Every trait we see in the living world—from the cheetah’s speed to the whale’s size to the human brain’s complexity—owes its existence to countless mutations that accumulated over millions …

28 Márta 2024 · Germline variation and somatic mutation are intricately connected and together shape human traits and disease risks.

3 days ago · Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily. The …

This review outlines the main DNA mutations that occur along the human genome and their influence on human health. The subject of patents pertaining to DNA mutations and genetic disorders has been …