Copy Number & Rare Variant Detection Patents: Leaders & Trends 2026
- 29.6% concentration at the top. The five leading assignees combined account for 497 of the 1,678 records in scope — a marked concentration ahead of a long tail of single- and few-filing entrants.
- Filings are still climbing, not cooling. Annual filings rose from 65 in 2021 to 79 in 2024, a 22% increase over that span — the growth story is intact even as very recent years look artificially low from publication lag.
- C12Q dominates, but bioinformatics is close behind. 80.2% of records touch C12Q (enzyme/DNA measuring and testing), while 23.4% also carry G16B bioinformatics classes — signalling that computational calling methods are now inseparable from the assay claims.
Filing growth compares 2021 (65 records) with 2024 (79) — a three-year span. 2024 is the most recent year we treat as complete: publication lags filing by roughly 18 months, so 2025 onwards are still filling in and any growth rate that ends there would understate the field. Top-5 share is the combined record count of the five largest assignees divided by all 1,678 records in scope (CR5), not by the ranked leaders only.
What this landscape covers
This landscape tracks patent families addressing copy number variation and rare variant detection, spanning assay design choices such as limit of blank thresholds, false positive partitioning, template fragmentation and multiplex colour/color schemes, together with confirmatory sequencing workflows and allelic discrimination methods. The scope covers 1,678 published records filed or published between 2015 and mid-2026, drawn from a search string that ties detection-method terms to assay-design and validation terms rather than treating either set alone.
Because the corpus pairs a biological detection concept with a specific validation or design mechanism, it captures the claims that matter for regulatory and analytical validity — not just any nucleic-acid quantification filing. Readers should treat the most recent one to two years as undercounted, since publication typically lags filing by roughly 18 months.
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Filing trends and technology composition
Two views of the same 1,678-record corpus: how filing activity has moved year over year, and which IPC subclasses the claims actually sit in.
Filing trend: growth resumed after the 2017 peak
Annual filings peaked at 143 in 2017, then settled into a lower band before recovering: 65 in 2021 rising to 79 in 2024, a 22% increase over that three-year window. Years from 2025 onward are still filling in as publications catch up to filing dates, so the apparent tail-off should not be read as a slowdown.
Technology composition: assay measurement dominates, bioinformatics is a large secondary layer
C12Q (enzyme/DNA measuring and testing) appears in 80.2% of the 1,678 records, far ahead of C12N genetic engineering at 27.3% and G16B bioinformatics at 23.4%. Because records can carry multiple IPC classes, these figures sum to more than 100% — the pattern to note is that computational classes (G16B, G06F at 8.0%) sit alongside the wet-lab classes rather than in a separate cluster, meaning most modern filings claim detection and calling together.
Shares are the percentage of the 1,678 records in scope. A patent can carry several IPC classes, so the shares add up to more than 100%.
Go deeper on Copy Number and Rare Variant Detection with Eureka
This page is one run against one query. Ask Eureka your own question about copy number and rare variant detection and every answer comes back with the patent numbers behind it.
Try EurekaRepresentative and most-cited filings
US20200392582A1 — Hierarchical model for detecting benign and malignant degrees of colorectal tumors
The filing describes a hierarchical model that grades change in an imprinted gene within colorectal tumor tissue by calculating defect expression amount, copy number variation expression amount and total expression amount of that gene, using in situ labeling to detect the change objectively and early in patient tissue and cell samples.Abstract condensed from the original filing text.
| # | Publication no. | Patent title | Citations |
|---|---|---|---|
| 1 | US6326145B1 | Methods for detecting target nucleic acid sequences | 786 |
| 2 | US20120220494A1 | Compositions and methods for molecular labeling | 715 |
| 3 | US20120295819A1 | Methods and compositions for multiplex PCR | 309 |
| 4 | US20140274731A1 | Methods for targeted genomic analysis | 295 |
| 5 | WO2012112804A1 | Compositions and methods for molecular labeling | 285 |
| 6 | WO2011087760A2 | Processes and kits for identifying aneuploidy | 278 |
| 7 | US20130130923A1 | Processes and kits for identifying aneuploidy | 267 |
| 8 | US6610499B1 | Capillary array and related methods | 267 |
| 9 | US20070254295A1 | Methods of predicting and monitoring tyrosine kinase inhibitor therapy | 254 |
| 10 | US20140248621A1 | Microfluidic devices and methods for cell sorting, cell culture and cells based diagnostics and therapeutics | 230 |
Citation counts favour older filings simply because they have had more time to accumulate citations within this searched corpus — treat them as a signal of influence on the field's vocabulary, not of current commercial weight.
Each row carries its publication number; clicking a row searches Eureka by that number.
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Three patterns stand out once the ranking, the trend line and the IPC composition are read together.
The top of the field is settled, the rest is open
497 of the 1,678 records in scope belong to the five leading assignees, and the top ten combined reach 40.7%. That leaves roughly three in five records spread across a long tail — a structure typical of a field with one or two platform originators and many application-specific filers building on top of licensed or expired core methods.
Growth is real but recent years understate it
The 22% rise from 2021 to 2024 is the most reliable recent growth signal in this dataset, because 2024 is the last year that can be treated as substantially complete. Filing counts for 2025 and 2026 will continue to rise as those applications publish, so the apparent recent dip is a reporting artefact, not a market signal.
Detection and computation are now claimed together
G16B bioinformatics classes appear on 23.4% of records and G06F digital-data-processing classes on 8.0%, both alongside the dominant C12Q wet-lab classification. This overlap suggests that claim drafting increasingly bundles the biochemical assay step with the variant-calling or classification step, rather than leaving software methods to a separate filing.
Eureka can read the same corpus for gaps instead of for coverage: under-claimed branches adjacent to copy number and rare variant detection, with the prior art for and against each one.
Who is filing, and where the room still is
The ranked leaders combine platform-era diagnostics companies with newer non-invasive testing entrants; momentum data shows even the most active recent filers pulling back year over year, consistent with a field where core methods are now widely licensed rather than newly claimed.
One assignee holds a clear lead
The top-ranked assignee's 155 records sit well ahead of fifth place at 53 and tenth place at 33, indicating an early and sustained filing programme rather than a recent surge.
Most records sit outside the ranked leaders
With the top ten holding 40.7% combined, the majority of filings come from assignees outside that group — diagnostics labs, academic medical centres and smaller molecular-testing firms each contributing a handful of records.
Momentum is cooling among the historically largest filers
Every assignee with visible recent-year momentum in this dataset shows a year-over-year decline, from -60% down to -100% (zero filings) in the latest year. Read alongside the publication lag, this likely reflects incomplete recent-year data as much as a genuine pullback.
| Assignee | Recent year | YoY |
|---|---|---|
| Natera Inc | 4 | -60% |
| Bio-Rad Laboratories Inc | 1 | -80% |
| Personalis Inc | 1 | -80% |
| Life Technologies Corp | 0 | -100% |
| Sequenom Inc | 0 | — |
| ImmuneXpress | 0 | — |
| Resolution Bioscience Inc | 0 | -100% |
| Agrigenetics Inc | 0 | — |
Where to take this analysis
The dataset points to specific next questions for a filing or freedom-to-operate review.
Map claim scope against the top 10
With 40.7% of records held by ten assignees, a freedom-to-operate check should start there before widening to the long tail.
Explore assignee claims in EurekaTest white-space chips against live filings
The under-claimed sub-areas flagged here are starting points, not conclusions — verify current claim density before committing a filing strategy.
Run a white space search in EurekaTrack 2025-2026 publications as they land
Because publication lags filing by about 18 months, re-checking the trend in six to twelve months will sharpen the recent-growth picture.
Set up monitoring in EurekaCommon questions about this landscape
One assignee leads clearly with 155 records in this 1,678-record corpus, well ahead of the fifth-ranked assignee at 53 and the tenth-ranked at 33. The five leading assignees combined hold 29.6% of all records, and the top ten hold 40.7%, which means well over half the field's filings come from outside that ranked group. This points to a field with an established early leader but genuine room for newer entrants to build a differentiated position.
Yes, based on the most reliable comparable years: filings rose from 65 in 2021 to 79 in 2024, a 22% increase. The single highest filing year on record is 2017 at 143, but that reflects an earlier wave tied to core assay-design methods rather than the current growth trend. Filing counts for 2025 and 2026 look lower only because publication typically lags filing by roughly 18 months, so those years are still filling in.
C12Q, covering measuring and testing methods involving enzymes and DNA, appears in 80.2% of the 1,678 records and is the dominant classification by a wide margin. C12N genetic engineering methods (27.3%) and G16B bioinformatics methods (23.4%) are the next largest, with G06F digital data processing at 8.0%. Because a single record can carry several IPC codes, these percentages add up to more than 100%, and the practical takeaway is that computational variant-calling claims now routinely accompany the underlying assay claims.
Based on the technology composition, sub-areas tied to assay validation mechanics — such as template fragmentation controls, multiplex colour panel design, false-positive partition calling and limit-of-blank threshold methods — show up as design-mechanism terms in the search scope rather than as heavily populated standalone IPC clusters. These are worth checking directly against current filings before assuming they are open, since class-level data alone cannot confirm claim density at that granularity. A targeted claims search against the ranked leaders' portfolios is the necessary next step.
With the top five assignees holding 29.6% of the 1,678 records and the top ten holding 40.7%, this field shows moderate concentration: enough to indicate an established leader and a handful of well-resourced followers, but not so much that the remaining assignees are shut out. The long tail beyond the ranked ten accounts for the majority of records, spread across smaller diagnostics companies, academic centres and single-filing entrants. That structure typically favours new entrants who can find application-specific claim space rather than compete head-on for the core methods.
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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 inherent limitations: recent filings (typically the most recent 18–24 months) are under-counted due to standard publication lag; counts may be reported at either a patent-family or a patent-record basis and are not always directly comparable; classification, applicant-name, and citation data may contain errors, duplicates, or omissions; and the underlying search query defines and constrains the scope shown. 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, or validity search, nor does it constitute legal, financial, investment, or professional advice, and it should not be relied upon as such. Any patent, commercial, or strategic decision should be verified independently 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.
Machine translation. Assignee and organisation names originally recorded in Chinese, Japanese or Korean have been rendered into English by an AI translation step so that the tables stay readable. These renderings are best-effort and may not match a company’s registered English name; the original name is what the underlying patent record carries, and it is what any Eureka query launched from this page uses.