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Everything about Mutation
Alteration in the nucleotide sequence of a genome
In biology, a mutation is an alteration in the nucleic acid sequence of the genome of an organism, virus, or extrachromosomal DNA. Mutations result from errors during replication, mitosis, meiosis, or damage to DNA, which then may trigger error-prone repair or cause an error during replication. Mutations may also result from substitution, insertion or deletion of segments of DNA due to mobile genetic elements. Wikipedia →
🧭 Start here: a 6-step reading path
- Read the overview: MutationA 5-minute orientation
- Skim a recent paper: Adagrasib in Non–Small-Cell Lung Cancer Harboring a KRAS G12C MutationInfluential work since 2022
- Pick up a classic book: A Canticle for LeibowitzThe most-reprinted book on the subject
- Read the landmark paper: Statistical method for testing the neutral mutation hypothesis by DNA polymorphism.Cited 10,286 times
- Go sideways: Molecular evolutionA closely related topic
- Go sideways: GeneticsA closely related topic
📖 Definitions
Noun Any alteration or change.
Noun Any heritable change of the base-pair sequence of genetic material.
Noun A mutant.
Noun An alteration in a particular sound of a word, especially the initial consonant, which is triggered by the word's morphological or syntactic context and not by its phonological context.
🏆 Landmark papers (most cited)
Statistical method for testing the neutral mutation hypothesis by DNA polymorphism.
Mutation in the α-Synuclein Gene Identified in Families with Parkinson's Disease
Improved Survival with Vemurafenib in Melanoma with BRAF V600E Mutation
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
Mutation and Cancer: Statistical Study of Retinoblastoma
Nivolumab in Previously Untreated Melanoma without BRAF Mutation
VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing
Erlotinib versus standard chemotherapy as first-line treatment for European patients with advanced EGFR mutation-positive non-small-cell lung cancer (EURTAC): a multicentre, open-label, randomised phase 3 trial
🆕 Influential since 2022
Adagrasib in Non–Small-Cell Lung Cancer Harboring a KRAS G12C Mutation
Sotorasib versus docetaxel for previously treated non-small-cell lung cancer with KRASG12C mutation: a randomised, open-label, phase 3 trial
Somatic mutation rates scale with lifespan across mammals
Overall Survival With Maintenance Olaparib at a 7-Year Follow-Up in Patients With Newly Diagnosed Advanced Ovarian Cancer and a BRCA Mutation: The SOLO1/GOG 3004 Trial
Evolution of the germline mutation rate across vertebrates
📚 Books worth reading
A Canticle for LeibowitzWalter M. Miller Jr., Волтер Майкл Міллер-молодший · 1959
The Day of the TriffidsJohn Wyndham, Marcel Battin · 1951
MiddlesexJeffrey Eugenides · 2002
More Than HumanTheodore Sturgeon · 1952
NextMichael Crichton · 2006
The ChrysalidsJohn Wyndham · 1955
SlanA. E. van Vogt, Oliver Wyman · 1946
The GeneSiddhartha Mukherjee, Dennis Boutsikaris · 2016
Ranked by number of editions on Open Library, a rough measure of how lasting a book is.
🔗 Related topics
- Molecular evolution Molecular evolution describes how inherited DNA and/or RNA change over evolutionary time, and the consequences of this for proteins and other components…
- Genetics Genetics is the study of genes, genetic variation, and heredity in organisms. It is an important branch in biology because heredity is vital to organisms'…
- Neutral mutation Neutral mutations are changes in DNA sequence that are neither beneficial nor detrimental to the ability of an organism to survive and reproduce. In population…
- Point mutation A point mutation is a genetic mutation where a single nucleotide base is changed, inserted or deleted from a DNA or RNA sequence of an organism's genome…
- Molecular genetics Molecular genetics is a branch of biology that addresses how differences in the structures or expression of DNA molecules manifests as variation among…
- Gene In biology, the word gene has two meanings. The Mendelian gene is a basic unit of heredity. The molecular gene is a sequence of nucleotides in DNA that…
- Nuclear gene A nuclear gene is a gene whose DNA sequence is located within the cell nucleus of a eukaryotic organism. These genes with nuclear DNA are distinguished…
- Synonymous substitution A synonymous substitution (often called a silent substitution though they are not always silent) is the evolutionary substitution of one base for another…