https://eureka.patsnap.com/resources/blog/rd-blog/reference-guided-variant-calling-pipeline-algorithm-patent-landscape/ · Patsnap · data cut-off null · downloaded from the live page
Patent Landscape · Genomics & Bioinformatics

Reference-Guided Variant Calling Pipeline Patents: Who Holds the Claims

A patent landscape review of reference-guided variant calling pipeline algorithms: who holds the filings, how the IPC composition breaks down, and where claim

23
Published Records
US
Leading Jurisdiction
9
Filers Listed (max 100)
2013
Peak Filing Year

  • One assignee holds 7 of the records in the ranking while the next four ranked entities hold 1 apiece, pointing to a concentrated core surrounded by a long tail of single-filing entrants.
  • Every one of the 23 records in scope carries a G16B bioinformatics class and 43.5% pair it with G06F digital data processing, showing the field sits squarely at the software/bioinformatics boundary rather than in wet-lab chemistry.
  • Filing activity shows no sustained recent peak with the tracked high point back in 2013 and a thin, still-lagging record count in the most recent years, a signal to check freshly published families before assuming the space is quiet.
Check your own idea
Published byPatsnap Research··6 min readSourced from Patsnap Eureka
Overview

What this landscape covers

This landscape tracks patent families whose claims combine variant calling (or a variant caller) with a reference genome or reference-guided approach, executed as a pipeline. That combination narrows the field to computational and system claims for turning aligned sequencing reads into called variants against a reference, rather than the broader universe of sequencing chemistry or assay patents. The scope spans 2015 through the 2026-08-31 cut-off, with 23 total published records forming the base for every figure on this page.

Because publication lags filing by roughly 18 months, the most recent one or two years in the filing trend are understated by construction, recently filed families have not yet published. Readers should treat the 2013 peak as the clearest completed signal in the dataset and treat any apparent recent decline with that lag in mind rather than as proof of a cooling field.

Filing activity and technology composition, 2015–2026 cut-off
  1. ILLUMINA INC7
  2. HASSO PLATTNER INSTITUT FUR SOFTWARESYSTTECHN6
  3. LIFE TECHNOLOGIES CORP4
  4. RES INST AT NATIONWIDE CHILDRENS HOSPITAL2
  5. ALL INDIA INST OF MEDICAL SCI DELHI1
  6. REGENERON PHARMACEUTICALS INC1
  7. GRAIL INC1
  8. INDRAPRASTHA INST OF INFORMATION TECH DELHI1
  9. VERILY LIFE SCIENCES LLC1

Ordered by volume only, not by importance or claim strength. Counted in published records, so one invention filed in several countries counts more than once. Names come from Patsnap's standardised assignee field as recorded on each document; subsidiaries and group companies are not merged. The icon before each name is read from the name itself (words such as University, Institute or Ltd); the data carries no organisation-type field, so treat it as a reading aid rather than a classification. 2 rows in this table share the name LIFE (LIFE TECHNOLOGIES CORP, VERILY LIFE SCIENCES LLC). They are left as separate rows, so the largest-filer figure above is per legal entity, not per group. Rows that look related still cannot be added together: one family can name several of them. Filings held by named individuals rather than organisations are removed where they can be identified; that identification is not exhaustive, so an individually held filing can still appear below. Either way those filings stay inside the totals above. This table shows the top 9 of the 9 filers returned for this search; the data endpoint returns at most 100 entities, so even that 9 is not the complete set of filers. A single record can name more than one filer, so these counts overlap and do not add up to the total.

Source: Patsnap Eureka. Assignee ranking and totals. Derived from one Patsnap search for Reference-Guided Variant Calling Pipeline Algorithm Patent Landscape, covering all matching records regardless of filing date (the search string sets no date limit). Counts cover published records only and move as new filings publish.Run this in Eureka MCP
The data

Filing trend and technology composition

Two views of the same 23-record set: how filings have moved year over year, and which IPC subclasses the claims sit in.

Filing trend

The tracked filing trend runs from 6 records in 2013 down to 0 in the partial, most-recent year. With fewer than four complete years available once the publication lag is accounted for, no growth rate can be stated, the honest reading is that 2013 remains the peak year so far, and later years need re-checking once more filings publish.

Filing trend0235662013201420152016201720182019202020212022202320242025020262022 onwards are shaded as still filling in: a filing is only visible once it publishes, up to 30 months after filing.

Counted in published records by earliest filing year, not de-duplicated into families. A filing is counted in the year it was filed, but it only becomes visible after it publishes: roughly 18 months for most routes, and up to 30 months where a PCT application enters national phase. 2022 onwards are therefore still filling in and are shaded; no growth figure on this page uses them. Because this series counts documents rather than inventions, a rise can mean more inventions or the same inventions filed in more countries; this dataset cannot separate the two.

IPC subclass composition

G16B (bioinformatics) appears in all 23 records in scope, unsurprising given the search terms, while G06F (electric digital data processing) appears in 43.5% of records, marking the software-implementation side of the claims. Smaller shares in C12Q, G01N, G06N, G16H, G06G and G06K (each 8.7% or below) show the pipeline claims occasionally reach into wet-lab measurement, AI-model computing, or healthcare informatics, but those are minority framings, not the core of the art.

IPC subclass compositionG16B · Bioinformatics23100.0%G06F · Electric digital data processi…1043.5%C12Q · Measuring & testing involving …28.7%G01N · Material analysis & testing28.7%G06N · Computing based on AI models28.7%G16H · Healthcare informatics28.7%G06G · Analogue computers14.3%G06K · Data recognition & presentation14.3%Other521.7%

Shares are the percentage of the 23 published records in scope. One published record can carry several IPC classes, so the shares add up to more than 100%.

Source: Patsnap Eureka. Filing trend and technology composition. Derived from one Patsnap search for Reference-Guided Variant Calling Pipeline Algorithm Patent Landscape, covering all matching records regardless of filing date (the search string sets no date limit). Counts cover published records only and move as new filings publish.

Go deeper on Reference-Guided Variant Calling Pipeline Algorithm Patent Landscape with Eureka

This page is one run against one query. Ask Eureka your own question about reference-guided variant calling pipeline algorithm patent landscape and every answer comes back with the patent numbers behind it.

Try Eureka
Representative filing

A representative claim in this space

Representative record
US20250218549A12025-07-03

Bioinformatics Systems, Apparatuses, and Methods Executed on an Integrated Circuit Processing Platform

ILLUMINA, INC.

A system, method and apparatus for executing a sequence analysis pipeline on genetic sequence data includes an integrated circuit formed of a set of hardwired digital logic circuits that are interconnected by physical electrical interconnects. One physical electrical interconnect forms an input to the integrated circuit connected with an electronic data source for receiving reads of genomic data. The hardwired digital logic circuits are arranged as a set of processing engines, each performing one or more steps in the sequence analysis pipeline on the reads of genomic data.Abstract excerpted from the published filing; full claim scope should be read from the granted claims, not this summary.

US20250218549A1, patent drawing 1US20250218549A1, patent drawing 2
View filing details

Selected as the first record the search returns under the database default order, then shown in full. It is not ranked by citations, claim breadth or commercial importance, and it is not a judgement about which filing in this space matters most.

Source: Patsnap Eureka. The first record the search returned, shown in full. Derived from one Patsnap search for Reference-Guided Variant Calling Pipeline Algorithm Patent Landscape, covering all matching records regardless of filing date (the search string sets no date limit). Counts cover published records only and move as new filings publish.Run this in Eureka MCP
Run it yourself

Put your own technology through the same analysis


  
Where to run it
Fastest

Eureka on the web

When you want the answer in the next five minutes.

The agent works the prompt against patents and technical literature, citing every source.

Run your analysis now →
For builders

MCP server & REST API

When it has to run inside your own pipeline.

Patent search, landscape analysis and assignee resolution as MCP tools. Drop them into any agent framework, or call REST directly.

Browse MCP servers →
Reading the data

What the numbers mean for filing strategy

Four findings worth acting on before drafting or freedom-to-operate work in this space.

Concentration
7 vs. 1
leader vs. fifth-place record count

One filer ahead of a thin field

The leading assignee holds 7 of the records in the ranked list; the fifth-ranked entity holds only 1. With 9 companies in the ranking overall, that gap says the leader has built a substantial position while most other named filers have a single documented family, worth checking directly rather than assuming broad coverage.

Ranked assignees: 9
Technology core
100% G16B
share of the 23 records carrying a bioinformatics class

Every record sits in bioinformatics; software is the second axis

All 23 records in scope carry a G16B bioinformatics classification, confirming the search terms found the right art. G06F digital data processing follows at 43.5% of records, meaning close to half the claims are also framed as general-purpose computing implementations, a detail that matters for infringement analysis on software patents.

IPC shares sum above 100% because records carry multiple classes
Filing timing
Peak: 2013
highest tracked filing year in this set

No confirmed recent surge, check freshest filings directly

The tracked trend falls from 6 filings in 2013 to 0 in the current partial year. Because publication lag of roughly 18 months understates the newest years by construction, this is not evidence the field has gone quiet, it means the most recent filings have not surfaced yet in this data cut.

Coverage window: 2015-01-01 to 2026-08-31
Filing venues
US 10 · EPO 7
records by receiving office

Filing activity centres on the US and Europe

Of the tracked receiving offices, the United States accounts for 10 records and the European Patent Office for 7, with single-digit counts at AT, Germany, Hong Kong and India. Anyone assessing freedom to operate outside the US and Europe should check regional filings directly rather than assume equivalent coverage.

Receiving offices tracked: US, EPO, AT, DE, HK, IN
Eureka AI Agent
Looking for what nobody has claimed yet?

Eureka can read the same corpus for gaps instead of for coverage: under-claimed branches adjacent to reference-guided variant calling pipeline algorithm patent landscape, with the prior art for and against each one.

Find the white space →
Source: Patsnap Eureka. Derived observations on the same dataset. Derived from one Patsnap search for Reference-Guided Variant Calling Pipeline Algorithm Patent Landscape, covering all matching records regardless of filing date (the search string sets no date limit). Counts cover published records only and move as new filings publish.Run this in Eureka MCP
Next steps

Where to take this analysis

The dataset points to specific follow-up work rather than a single conclusion.

Map the leader's claim scope family by family

With 7 of the ranked records held by one assignee, the practical next step is reading each family's independent claims to see whether they cover the hardware-integration approach, the software pipeline logic, or both.

Explore assignee filings in Eureka

Track newly published filings against the lag

Because the most recent years are understated by publication lag, re-running this search periodically will surface filings that have not yet cleared publication, important before concluding the field has slowed.

Set up monitoring in Eureka

Check the minority IPC branches for open claim space

C12Q, G01N, G06N, G16H, G06G and G06K each cover a small minority of records; these are candidate areas where fewer claims currently sit and where a well-drafted filing may face less crowded prior art.

Run a white space search in Eureka
Source: Patsnap Eureka. Suggested next steps. No new data: every figure named here is one of those above. Derived from one Patsnap search for Reference-Guided Variant Calling Pipeline Algorithm Patent Landscape, covering all matching records regardless of filing date (the search string sets no date limit). Counts cover published records only and move as new filings publish.Run this in Eureka MCP
FAQ

Frequently asked questions

Answers are grounded in the same dataset. Derived from one Patsnap search for Reference-Guided Variant Calling Pipeline Algorithm Patent Landscape, covering all matching records regardless of filing date (the search string sets no date limit). Counts cover published records only and move as new filings publish.Run this in Eureka MCP

Research Reference-Guided Variant Calling Pipeline Algorithm Patent Landscape in depth with Eureka

Go past this page: query the whole reference-guided variant calling pipeline algorithm patent landscape corpus yourself, in your own scope.
Every answer comes back with patent numbers you can open.

Try Eureka
How this page was built, and what the numbers do and do not mean

Search. Every figure on this page comes from one Patsnap search, run once and not edited afterwards. This is the exact search string:

TAC:(("variant calling" OR "variant caller") AND ("reference genome" OR "reference-guided") AND pipeline)

Reading the field codes: TAC searches the title, abstract and claims of each record, not the full description. The search string sets no date limit, so the scope is every matching record in the database regardless of when it was filed. It is not restricted to recent years. How this string was built matters for how far the counts can be pushed. It was generated in batch from a topic list rather than hand-crafted for this page, and the result set is not manually screened. A keyword search over title, abstract and claims both over-captures (unrelated filings that happen to use the same words) and under-captures (the same invention written in different words). This page cannot measure either effect, so read every figure here as what this particular string returned, not as what exists in the field. One subclass (G16B) carries 100.0% of the published records, so this search returned a classification-tight set.

What is being counted. Two different units appear on this page and they are not interchangeable. The filer list and the technology split are counted in simple (DOCDB) patent families: one invention counts once however many countries it was filed in. The total, the jurisdiction split and the filing-year chart are counted in published records: the same invention counts once per publication. Record counts reward filing in many jurisdictions; family counts do not. Shares are only ever taken against a denominator in the same unit, and each one names it.

Who the filers are. Names come from Patsnap's standardised assignee field, as recorded on the documents themselves. They are not rolled up to corporate group: a parent and its subsidiaries appear as separate entries, and a portfolio acquired from another company stays under the name on the document unless the assignment is reflected there. This list is meant to carry organisations, not people. Filings held by a named individual are identified by matching the assignee against the inventors on the same search, and, for names written in Chinese, Japanese or Korean characters, by the name carrying no organisational suffix; those are removed from the list. Neither test is exhaustive: the inventor list it matches against is itself capped, and a personal name written in Latin script with no organisational wording in it cannot be told apart from a short company name by rule. So an individually held filing can still appear in the list. Those filings stay inside every total and share on this page either way, so the listed entries can add up to less than the total. A record shown in full further down still names its assignee exactly as the patent office records it, including where that is a person: that name is how the record is identified and checked. What is left out of the ranking is people as ranked entries, not people as cited sources. The table shows the top 9 of the 9 filers returned, ordered by count alone; the data endpoint returns at most 100 entities, so even that 9 is not every filer. One published record can name several filers and each is counted separately, so these rows are not slices of a divided whole: adding them together over-counts, and this page deliberately publishes no combined "top five" share for that reason. See every filer, individuals included

Dates. The year chart counts by earliest filing year, not publication year. A filing only becomes visible once it publishes: roughly 18 months for most routes, and up to 30 months where a PCT application enters national phase. Measured across these pages, the year four back from today still holds only about 89% of its eventual count. 2022 onwards are therefore shaded on the chart as still filling in. The data behind this page was retrieved shortly before the publication date shown above.

Legal status. Legal status was not available for this search, so no in-force figure is shown. Get the status breakdown in Eureka

Classification. The technology split uses IPC subclasses (four characters, for example H01M). A single record usually carries several, so the shares add up to more than 100% and a record can appear in more than one bar. Subclass is a coarse grouping; it describes the field a record was classified into, not what the claims cover. Break the classes down to subgroup level

Who wrote the words. The tables, charts, counts, shares and patent numbers on this page are produced directly from the search result by a program; none of them are written or estimated by a language model. The surrounding prose, headings, FAQ answers and the answers in the question panel are drafted by a language model that is given those same figures and is not permitted to introduce others. Prose can still mis-describe a correct figure, so where the two disagree, the tables and charts are the record.

Disclaimer. This page is generated from Patsnap Eureka data drawn from a limited snapshot of global patent and scientific-literature records, and is provided for general information and reference only.

Patent data carries limitations that apply to every figure above. Recent filings are under-counted, because an application is not public until roughly 18 months after filing and database loading adds further delay. The search string defines and constrains everything shown: records that use different terminology, or that sit outside the fields searched, are absent and cannot be counted. Applicant names, classification codes, legal-status codes and citation records are taken as recorded and may contain errors, duplicates, omissions or stale entries. Ordering by volume is not a measure of quality, scope, enforceability or commercial value, and a larger portfolio is not a stronger one. As a result, the analysis may be incomplete or inaccurate and may not reflect the full technology landscape.

Nothing on this page constitutes an exhaustive prior-art, novelty, freedom-to-operate, validity or infringement search, nor does it constitute legal, financial, investment, or professional advice, and it should not be relied upon as such. No attorney-client relationship is created by it. Any patent, commercial, or strategic decision should be verified independently against the primary records and reviewed with qualified patent, legal, and domain professionals. Patsnap makes no warranties, express or implied, as to the accuracy, completeness, or fitness for any particular purpose of the information presented.

The question panel. The answers behind the suggested questions on this page were written when the page was generated, not in response to your click. The progress steps that play before an answer appears are an animation of how that analysis was done; nothing is being searched or computed at that moment. Typing your own question instead opens Patsnap Eureka, which does run it live.

Help us improve

Something wrong, out of date, or missing on this page? Tell us and it goes straight to the team that maintains it.