Genomics & Biological Data

1869 · 157 years ago

Friedrich Miescher first discovered and isolated DNA

Miescher isolated deoxyribonucleic acid, though the substance remained largely neglected for decades because proteins were assumed to carry hereditary information. The discovery established the molecule that sequencing would later read.

1944 · 82 years ago

Avery, MacLeod and McCarty showed purified DNA could transform bacteria

Their experiments demonstrated that purified DNA could change one strain of bacteria into another, the first evidence that DNA transforms the properties of cells. This shifted attention from proteins to DNA as the carrier of genetic information.

1953 · 73 years ago

James Watson, Francis Crick and Rosalind Franklin described the double helix structure of DNA

Building on Rosalind Franklin's X-ray diffraction images, Watson and Crick described DNA as two complementary nucleotide strands with A pairing to T and C to G, showing how genetic information is physically encoded. The complementary base-pairing principle underpins every later sequencing method and provided the structural basis without which reading or interpreting a genome would not be possible.

1955 · 71 years ago

Frederick Sanger completed the amino acid sequence of insulin

Sanger sequenced all the amino acids in insulin, giving the first conclusive evidence that proteins have specific molecular patterns rather than random composition. The achievement laid the conceptual foundation for sequencing biological polymers, including nucleic acids.

1958 · 68 years ago

Francis Crick published his theory that nucleotide order determines amino acid sequence

After attending Sanger's lectures in 1954, Crick developed and then published the argument that the arrangement of nucleotides in DNA determines the sequence of amino acids in proteins, and hence protein function. This made determining DNA order a central scientific goal.

1970 · 56 years ago

Ray Wu at Cornell University established the first location-specific primer extension sequencing

Wu used DNA polymerase catalysis and specific nucleotide labelling to sequence the cohesive ends of lambda phage DNA. Both elements remain prominent in modern sequencing schemes.

1970–73 · 56 years ago

Wu, Padmanabhan and colleagues showed the primer method could sequence any DNA using synthetic primers

They generalised the location-specific primer extension approach by using synthetic, location-specific primers. This turned a special-case technique into a general-purpose sequencing strategy.

1972–76 · 54 years ago

Walter Fiers and coworkers at the University of Ghent published the first complete gene and genome of Bacteriophage MS2

Fiers's group identified and published the first complete gene sequence in 1972 and the complete MS2 genome in 1976, using RNA sequencing methods. It was the first whole genome of any organism to be sequenced.

1973 · 53 years ago

Walter Gilbert and Allan Maxam at Harvard reported the sequence of 24 base pairs by wandering-spot analysis

Their result demonstrated early chemical approaches to reading DNA order. Progress was aided by the concurrent rise of recombinant DNA technology, which allowed DNA samples to be isolated from sources other than viruses.

1975 · 51 years ago

Frederick Sanger and Alan Coulson developed the Plus and Minus sequencing method

The technique supplied all DNA components while excluding the reaction of one of the four bases needed to complete the strand. It was the direct precursor to Sanger's chain-termination method.

1976 · 50 years ago

Gilbert and Maxam invented Maxam–Gilbert sequencing

Working at Harvard, they created a method for rapidly sequencing DNA by chemical modification and cleavage at specific bases, published in 1977. It was one of the first practical rapid sequencing techniques, though it is now largely obsolete.

1977 · 49 years ago

Frederick Sanger developed the chain-termination method of DNA sequencing

At the MRC Centre in Cambridge, Sanger adopted a primer-extension strategy based on selective incorporation of chain-terminating dideoxynucleotides by DNA polymerase during in vitro replication, publishing the same year alongside a competing chemical method from Walter Gilbert and Allan Maxam. Its relative ease and reliability made it the method of choice, dominating from the 1980s to the mid-2000s and earning Sanger his second Nobel Prize.

1977 · 49 years ago

Sanger's group sequenced the first full DNA genome, bacteriophage φX174

φX174 became the first complete DNA genome ever determined. It demonstrated that whole genomes, not just fragments, were within reach of the new methods.

1980 · 46 years ago

Nobel Committee awarded Gilbert and Sanger the 1980 Nobel Prize in Chemistry

The prize recognised their independent contributions to nucleic acid sequencing. It marked institutional acknowledgment that DNA sequencing had become a foundational scientific capability.

early 1980s · 46 years ago

Herbert Pohl and co-workers developed non-radioactive direct-blotting electrophoresis for sequencing

Their method transferred DNA molecules from sequencing reaction mixtures onto an immobilising matrix during electrophoresis. It was commercialised as the GATC 1500 sequencer by GATC Biotech and used in the EU genome-sequencing programme, including yeast chromosome II.

1983 · 43 years ago

Kary Mullis invented the polymerase chain reaction

PCR provided a simple way to copy a specific stretch of DNA billions of times from a trace sample, becoming an indispensable preparatory step for nearly all subsequent genome sequencing and genetic analysis techniques.

1984 · 42 years ago

Alec Jeffreys developed DNA fingerprinting

The British geneticist discovered that variable regions of the genome could identify individuals almost uniquely, a technique swiftly adopted in criminal investigations, paternity disputes and immigration cases and still central to forensic genomic analysis.

1984 · 42 years ago

Medical Research Council scientists deciphered the complete sequence of the Epstein-Barr virus

The 172,282-nucleotide sequence was achieved with no prior genetic profile knowledge of the virus. This marked a turning point by showing sequencing could proceed de novo on a large genome.

1986 · 40 years ago

Leroy E. Hood's laboratory at Caltech announced the first semi-automated DNA sequencing machine

The instrument mechanised parts of the sequencing workflow using fluorescence-based detection. It opened the path to industrial-scale sequencing.

1987 · 39 years ago

Applied Biosystems marketed the first fully automated sequencer, the ABI 370

The ABI 370 made automated sequencing a commercial product, soon followed by Dupont's Genesis 2000, which used fluorescent labelling to identify all four dideoxynucleotides in a single lane. Commercial automation made large genome projects feasible.

1990 · 36 years ago

US National Institutes of Health began large-scale sequencing trials on model organisms

Trials covered Mycoplasma capricolum, Escherichia coli, Caenorhabditis elegans and Saccharomyces cerevisiae at a cost of US$0.75 per base. In parallel, expressed sequence tag sequencing of human cDNA began in Craig Venter's lab to capture the coding fraction of the human genome.

October 1990 · 36 years ago

Roger Tsien and colleagues filed a patent on base-by-base sequencing with removable 3' blockers

The patent described stepwise sequencing on DNA arrays, including blots and single DNA molecules. Combined with later DNA colony methods, this chemistry underlies Illumina's Hi-Seq sequencers.

1992 · 34 years ago

Sydney Brenner and Sam Eletr founded Lynx Therapeutics

The company went on to develop massively parallel signature sequencing in the 1990s, the first of the high-throughput technologies. It was a key corporate origin of next-generation sequencing.

1993 · 33 years ago

researchers first described the principle of real-time sequencing by synthesis

The principle was described in 1993 with improvements published some years later. It has since been used in almost all massively parallel sequencing instruments, including 454, PacBio, IonTorrent, Illumina and MGI.

1995 · 31 years ago

Craig Venter and colleagues at The Institute for Genomic Research sequenced the first complete genome of a free-living organism

Craig Venter, Hamilton Smith and colleagues at The Institute for Genomic Research published in Science the 1,830,137-base circular chromosome of Haemophilus influenzae, the first complete genome of a free-living organism and the first published use of whole-genome shotgun sequencing. The approach proved an entire genome could be assembled from short fragments without a prior map, eliminating initial mapping efforts and becoming standard for large genomes, later scaled up for the human genome.

1996 · 30 years ago

Pål Nyrén and Mostafa Ronaghi at the Royal Institute of Technology published the method of pyrosequencing

Pyrosequencing offered a real-time, luminescence-based alternative to gel electrophoresis. A parallelised version was later developed by 454 Life Sciences, subsequently acquired by Roche Diagnostics.

April 1997 · 29 years ago

Pascal Mayer and Laurent Farinelli submitted patents describing DNA colony sequencing

The patents covered DNA sample preparation and random surface-PCR arraying methods. Coupled with base-by-base chemistry, these methods are implemented in Illumina's genome sequencers.

1998 · 28 years ago

Shankar Balasubramanian and David Klenerman founded Solexa

Solexa developed a sequencing method using reversible dye-terminator chemistry and engineered polymerases. The company later became part of Illumina, whose platform came to dominate the market.

1998 · 28 years ago

Phil Green and Brent Ewing at the University of Washington described the phred quality score

The score provided a standard measure for assessing sequencer data accuracy. It gained widespread adoption and remains the most common metric for evaluating sequencing platforms.

1999 · 27 years ago

China joined the Human Genome Project, sequencing the so-called Chinese 1%

The Beijing Genomics Institute, later BGI, took responsibility for one per cent of the genome as the only developing-country participant in the international project, a foothold from which China built the world's largest genomics organisation.

Early 2026 · 6 months ago

The Human Pangenome Reference Consortium added more genomes from underrepresented populations to its reference

Expansion of the multi-genome reference, first published in 2023, continued to reduce the historic bias toward a single individual's DNA in the standard human reference genome, improving variant detection for people of African and other underrepresented ancestries.

June 2025 · last year

TTAM Research Institute bought 23andMe out of bankruptcy

The nonprofit founded by 23andMe co-founder Anne Wojcicki won the bankruptcy auction for the genetic testing company, which had collapsed after a major data breach and mounting losses, keeping the genetic data of millions of customers under new ownership.

• Several US state attorneys-general had urged customers to delete their genetic data during the bankruptcy process

February 2025 · 1 year ago

Roche announced a new proprietary small-molecule sequencing method

Roche said it was developing a sequencing approach relying on small molecules. It signalled continued competition to displace incumbent platform chemistries.

January 2025 · last year

India completed sequencing of its first 10,000 reference genomes

The Genome India project, drawing samples from across the country's population diversity, released initial findings intended to build a genomic reference more representative of Indian populations than the largely European-ancestry datasets researchers had relied on before.

• The dataset was made available to registered Indian researchers for disease-association studies

2025 · last year

Genomics England expanded whole genome sequencing of newborns beyond its initial pilot sites

The Generation Study, which screens babies for a panel of treatable childhood-onset genetic conditions and stores sequence data for possible later use, widened recruitment across NHS trusts toward its target of 100,000 newborns.

• Privacy and patient groups questioned long-term storage of newborn genomic data

2025 · last year

The WHO's International Pathogen Surveillance Network expanded genomic surveillance partnerships across lower-income countries

The network, set up to close gaps in sequencing capacity exposed during the COVID-19 pandemic, added partner laboratories across Africa, Asia and Latin America, aiming to speed detection of new pathogen variants and drug-resistant strains.

2025 · last year

Qatar and the UAE continued large-scale national genome sequencing programmes

The Qatar Genome Programme and the Emirati Genome Program expanded population-scale whole genome sequencing aimed at precision medicine and disease prevention, part of a small group of states building national genomic reference datasets of their own citizens.

2025 · last year

Oxford Nanopore Technologies cut costs amid sustained investor pressure over its share price

The Oxford-founded long-read sequencing firm, highly valued at its 2021 listing, restructured operations as revenue growth fell short of expectations, even as its nanopore sequencing technology continued to gain ground in research and clinical settings.

August 2024 · 2 years ago

Africa CDC used genomic sequencing to track a new mpox clade

Sequencing capacity built up across African laboratories identified clade Ib mpox spreading from the Democratic Republic of the Congo into neighbouring countries, evidence that fed into the World Health Organization's declaration of a public health emergency.

2024 · 2 years ago

Saudi Arabia continued expanding its national genome sequencing programme

The Saudi Human Genome Program, part of the kingdom's Vision 2030 healthcare goals, extended sequencing of citizens to build a national database intended to guide precision medicine and screening for genetic disorders common in the population.

2024 · 2 years ago

The US National Institutes of Health passed one million participants in its All of Us programme

The programme, built to reflect the diversity of the US population more broadly than earlier genomic studies, released an expanded dataset including hundreds of thousands of whole genome sequences to registered researchers.

2023 · 3 years ago

An international consortium published the first human pangenome reference

Built from 47 genetically diverse individuals rather than one, the new reference reduced the bias of the original human genome sequence toward a single donor of largely European ancestry, improving analysis accuracy across populations.

2022 · 4 years ago

scientists completed the final 8% of the human genome

The last unresolved portion was sequenced, yielding the fully sequenced standard reference GRCh38.p14 with 3.1 billion base pairs. This closed gaps left by the 2003 draft.

2022 · 4 years ago

Illumina held about 80% of the sequencing market

The remainder was divided among a small number of players including PacBio, Oxford, 454 and MGI. The concentration illustrates how narrowly the capability's supply base is held.

February 2021 · 5 years ago

scientists sequenced million-year-old mammoth DNA

Researchers reported the first sequencing of DNA from animal remains over a million years old, the oldest DNA sequenced to date. It extended the temporal reach of the capability into deep prehistory.

2019 · 7 years ago

next-generation sequencing overtook Sanger as the leading method for viral genome sequencing

NGS surpassed traditional Sanger sequencing as the most popular approach for generating viral genomes. Corporate leaders in high-throughput products at the time included Illumina, Qiagen and ThermoFisher Scientific.

2015 · 11 years ago

Pacific Biosciences launched the Sequel System

The instrument offered 1 million zero-mode waveguides compared with 150,000 in the PacBio RS II. It substantially raised throughput for long-read sequencing, which allows reads of 20,000 nucleotides or more.

2014 · 12 years ago

Illumina brought the cost of sequencing a human genome below $1,000

The HiSeq X Ten system, sold as a batch of ten machines, cut sequencing costs roughly a hundredfold within a decade of the Human Genome Project's completion, making population-scale genome sequencing economically feasible for the first time.

2013 · 13 years ago

BGI absorbed Complete Genomics

The Chinese genomics company took over Complete Genomics, originator of combinatorial probe anchor ligation technology. This gave China an indigenous high-throughput sequencing platform lineage.

2012 · 14 years ago

US Presidential Commission for the Study of Bioethical Issues found privacy law insufficient for whole-genome data

The commission reported that GINA and the Health Insurance Portability and Accountability Act did not adequately protect DNA sequencing data. It noted whole-genome data was especially sensitive because it could identify both individuals and their relatives.

2009 · 17 years ago

Helicos sequenced a human genome with the Heliscope single-molecule platform

The instrument demonstrated single-molecule human genome sequencing. The company went bankrupt in 2012, illustrating the commercial attrition among early high-throughput platforms.

May 2008 · 18 years ago

United States enacted the Genetic Information Nondiscrimination Act

GINA prohibited discrimination on the basis of genetic information in health insurance and employment. It was the first major legal framework addressing the consequences of widespread DNA sequencing.

October 2006 · 20 years ago

X Prize Foundation established the Archon X Prize for genome sequencing

The initiative offered $10 million to the first team to sequence 100 human genomes in ten days at high accuracy and no more than $10,000 per genome. It set an explicit public benchmark for cheap, fast whole-genome sequencing.

2006 · 20 years ago

23andMe launched direct-to-consumer genetic testing

Offering ancestry and health-related genetic reports directly to individuals for a few hundred dollars, the company and its rivals created a mass consumer market for personal genomic analysis outside clinical settings, raising early questions about data use.

2005 · 21 years ago

George Church's group at Harvard used polony sequencing to sequence a full E. coli genome

Among the first high-throughput systems, it combined an in vitro paired-tag library, emulsion PCR, an automated microscope and ligation-based chemistry. Accuracy exceeded 99.9999% at roughly one-ninth the cost of Sanger sequencing.

2004 · 22 years ago

Lynx Therapeutics and Solexa merged, shifting to sequencing-by-synthesis

The merged company adopted a simpler sequencing-by-synthesis approach acquired with Manteia Predictive Medicine, whose massively parallel technology had been invented in 1997 by Mayer and Farinelli. This rendered MPSS obsolete and set the course for Illumina's later dominance.

2003 · 23 years ago

The Human Genome Project published a complete reference sequence of the human genome

A publicly funded international consortium spanning the US, UK, Japan, France, Germany and China completed a sequence begun in 1990, racing a rival private effort by Celera Genomics and producing the reference genome researchers still build on today. The shotgun-based sequence covered about 92% of the genome, leaving the remaining hard-to-read fraction unresolved for nearly two decades.

• Celera Genomics had pushed the public project to finish years ahead of its original schedule

2001 · 25 years ago

Human Genome Project produced the first human genome by mass-production Sanger sequencing

The Sanger method in industrial form delivered the first human genome, ushering in the age of genomics. The cost was around $100 million per genome, falling to roughly $10,000 by 2011 as radically different approaches reached the market.

2000 · 26 years ago

Lynx Therapeutics published and marketed massively parallel signature sequencing

MPSS used parallelised, adapter/ligation-mediated, bead-based chemistry and was the first commercially available next-generation sequencing method, although no instruments were sold to independent laboratories. It marked the start of the commercial NGS era, with several mid-to-late-1990s methods reaching commercial sequencers by 2000.