Copy Number & Rare Variant Detection Patents: Leaders & Trends 2026
Copy Number and Rare Variant Detection Patents: Who Holds the Ground
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. 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.
- 1LIFE TECHNOLOGIES CORP155
- 2NATERA INC147
- 3SEQUENOM INC82
- 4BIO RAD LABORATORIES INC60
- 5IMMUNEXPRESS53
See the full copy number and rare variant detection analysis in Eureka
- The complete ranking, not just the top five
- Every IPC branch with its share of the corpus
- The most-cited records, and where claim space is still thin
Common questions about this landscape
Who holds the most patents in copy number and rare variant detection?
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.
Is the copy number variation and rare variant detection patent field still growing?
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.
What technology areas dominate the IPC classification for this field?
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.
Disclaimer. This analysis is based on Patsnap Eureka data drawn from a limited snapshot of global patent records and is provided for general information and reference only. Patent data carries inherent limitations — recent filings are under-counted because of publication lag, counts may be on a record or family basis, classification and applicant-name data may contain errors or duplicates, and the underlying search query defines the scope shown — so the analysis may be incomplete or inaccurate and may not reflect the full technology landscape.
Nothing here is an exhaustive prior-art, novelty, freedom-to-operate or validity search, nor does it constitute legal, financial or professional advice, and it should not be relied upon as such. Verify independently and review with qualified patent and legal professionals before acting on it.
Method: Filing trend and technology composition. Derived from a Patsnap search on Copy Number and Rare Variant Detection covering 2015–2026, data cut-off 2026-07-31. Counts reflect published records only and shift as new filings publish. Every share divides by all records in scope. Data: Patsnap Eureka. See the full landscape report.