Everything about Genomics
Discipline in genetics
Genomics is an interdisciplinary field of molecular biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA, including all of its genes as well as its hierarchical, three-dimensional structural configuration. In contrast to genetics, which refers to the study of individual genes and their roles in inheritance, genomics aims at the collective characterization and quantification of all of an organism's genes, their interrelations and influence on the organism. Genes may direct the production of proteins with the assistance of enzymes and messenger molecules. In turn, proteins make up body structures such as organs and tissues as well as control chemical reactions and carry signals between cells. Genomics also involves the sequencing and analysis of genomes through uses of high throughput DNA sequencing and bioinformatics to assemble and analyze the function and structure of entire genomes. Advances in genomics have triggered a revolution in discovery-based research and systems biology to facilitate understanding of even the most complex biological systems such as the brain. Wikipedia →
🧭 Start here: a 6-step reading path
- Read the overview: GenomicsA 5-minute orientation
- Skim a recent paper: Omicron variant of SARS‐CoV‐2: Genomics, transmissibility, and responses to current COVID‐19 vaccinesInfluential work since 2022
- Pick up a classic book: Advances in geneticsThe most-reprinted book on the subject
- Read the landmark paper: Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologyCited 30,803 times
- Go sideways: Molecular geneticsA closely related topic
- Go sideways: BioinformaticsA closely related topic
📖 Definitions
Noun The study of the complete genome of an organism.
🗂️ The subject at a glance
🏆 Landmark papers (most cited)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
The cBio Cancer Genomics Portal: An Open Platform for Exploring Multidimensional Cancer Genomics Data
Integrative genomics viewer
Integrative Analysis of Complex Cancer Genomics and Clinical Profiles Using the cBioPortal
Blast2GO: a universal tool for annotation, visualization and analysis in functional genomics research
Circos: An information aesthetic for comparative genomics
NCBI GEO: archive for functional genomics data sets—update
Integrative Genomics Viewer (IGV): high-performance genomics data visualization and exploration
🆕 Influential since 2022
Omicron variant of SARS‐CoV‐2: Genomics, transmissibility, and responses to current COVID‐19 vaccines
A joint NCBI and EMBL-EBI transcript set for clinical genomics and research
Nucleotide Transformer: building and evaluating robust foundation models for human genomics
igv.js: an embeddable JavaScript implementation of the Integrative Genomics Viewer (IGV)
JCVI: A versatile toolkit for comparative genomics analysis
📚 Books worth reading
Advances in geneticsJeffrey C. Hall, Jay C. Dunlap · 1996
The GeneSiddhartha Mukherjee, Dennis Boutsikaris · 2016
A Brief History of Everyone Who Ever LivedAdam Rutherford, Siddhartha Mukherjee · 2016
GenomeMatt Ridley · 1999
Genetics and Genomics in MedicineTom Strachan, Judith Goodship · 2014
Molecular BiologyJordanka Zlatanova, Kensal E. van Holde · 2015
Environmental microbiologyEugene L. Madsen · 2008
Welcome to the genomeRob DeSalle, Michael Yudell · 2004
Ranked by number of editions on Open Library, a rough measure of how lasting a book is.
🔗 Related topics
- 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…
- Bioinformatics Bioinformatics (/ˌbaɪ.oʊˌɪnfərˈmætɪks/ ) is an interdisciplinary field of science that develops computational methods and software tools for understanding…
- Sequence analysis In bioinformatics, sequence analysis is the process of subjecting a DNA, RNA or peptide sequence to any of a wide range of analytical methods to understand…
- Human genome The human genome is a complete set of DNA sequences for each of the 22 autosomes and the two distinct sex chromosomes (X and Y) in humans. A small DNA…
- DNA sequencing DNA sequencing is the process of determining the nucleic acid sequence – the order of nucleotides in DNA. It includes any method or technology that is…
- Genome In the fields of molecular biology and genetics, a genome is all the genetic information of an organism. It consists of nucleotide sequences of DNA (or…
- Timeline of the history of genetics The history of genetics can be represented on a timeline of events from the earliest work in the 1850s, to the DNA era starting in the 1940s, and the genomics…
- Single-nucleotide polymorphism In genetics and bioinformatics, a single-nucleotide polymorphism (SNP /snɪp/; plural SNPs /snɪps/) is a germline substitution of a single nucleotide at…