Shauli Zacks
Published on: June 8, 2025
Dr. Mark Perlin has spent more than two decades advancing how forensic DNA evidence is interpreted. As Chief Scientist and Executive at Cybergenetics, he developed the groundbreaking TrueAllele® system, which brings clarity to complex DNA mixtures that traditional methods often dismiss as inconclusive. With a background that spans mathematics, computer science, and medicine, Dr. Perlin has contributed to over a thousand criminal cases and testified in courts across the US and abroad. He also teaches forensic DNA analysis to scientists, attorneys, judges, and law enforcement. In this interview with SafetyDetectives, Dr. Perlin discusses the evolution of Cybergenetics, the power of probabilistic genotyping, and how TrueAllele is shaping the future of forensic science.
Can you introduce yourself and Cybergenetics and talk about what inspired you to work in forensic DNA analysis?
Hello. I am Dr. Mark Perlin, Chief Scientist and Executive of Cybergenetics. I founded the Pittsburgh-based biotechnology company in 1994. At the time, I was senior faculty in Computer Science at Carnegie Mellon University, working on automating artificial intelligence and the human genome project.
Cybergenetics’ first TrueAllele® product rapidly and accurately examined genetic lab data. The software eliminated the time, cost, and error of human data review. A few automated computers could replace an expensive army of manual reviewers.
In 1998, the UK’s Forensic Science Service (FSS) was building the world’s first DNA database for the British police. They had an annual backlog of 350,000 cheek swabs, with 100 analysts struggling to review all the DNA data. Our Databank solution eliminated Britain’s DNA backlog.
Who are the typical clients that use Cybergenetics’ TrueAllele technology, and what challenges does it help them solve?
Our clients are consumers of DNA information. Most DNA evidence comes in tiny amounts, or is a mixture of multiple people. Forensic scientists can’t easily interpret complex DNA data. They dismiss informative evidence as “inconclusive”. That’s where our TrueAllele® Casework system comes in.
A crime laboratory buys TrueAllele Casework to get more information from their DNA data. Without TrueAllele they couldn’t solve harder DNA problems. But with it they can. No other system resolves mixtures of 5 to 10 people.
Police use Cybergenetics services to investigate DNA evidence that their crime labs can’t solve. Prosecutors use TrueAllele to tie a defendant to a crime. Defense attorneys and innocence groups use it to prove their clients didn’t leave DNA at a crime scene. In the World Trade Center (WTC) disaster, our DNA-matching database helped a medical examiner identify victim remains.
Clients can rely on the technology. There have been over forty validation studies, eight published in peer-reviewed journals. TrueAllele has overcome over forty-five admissibility challenges in court, establishing its reliability. The system has been used in over a hundred thousand cases, assisting over five hundred agencies. And has helped exonerate a dozen innocent men.
How does Cybergenetics ensure the security and privacy of forensic DNA data, especially when handling sensitive case evidence?
TrueAllele servers are secured against unauthorized access at the data, communication, database, operating system, and access levels.
At the data level, no identifying information is stored on a TrueAllele database server, and sample names are anonymized. At the communication level, Secure Sockets Layer (SSL) encrypted connections between our VUIer™ client software and the database server protect internet communication.
At the database level, our client software restricts database access to specific laboratory personnel, with passwords stored on the database to protect user accounts. At the OS level, system set up, maintenance, and support are limited to Cybergenetics IT staff, who use encrypted Secure Shell (SSH) encryption.
Remote TrueAllele servers can only be accessed from user-specified Internet Protocol (IP) addresses. A firewall restricts all incoming connections to whitelisted IP addresses.
How does Cybergenetics’ TrueAllele technology enhance forensic investigations compared to traditional DNA analysis methods?
Traditional DNA data analysis becomes “inconclusive” or inaccurate with small amounts of DNA, or more than three people in a mixture. Then crime labs don’t report match results, police investigations are stymied, prosecutors lack evidence to convict criminals, defenders lose crucial exculpatory evidence, and innocence groups can’t exonerate the wrongfully convicted.
TrueAllele changes all that by finding truth in complex DNA evidence. The better science extracts accurate and objective match information from complex data. Society benefits from having new forensic evidence. Reliable facts help juries reach just verdicts.
With forensic DNA analysis constantly evolving, what are some recent advancements Cybergenetics has made to improve accuracy and efficiency?
Next Generation Sequencing (NGS) has been around for decades but is new to forensic science. NGS offers a better way of generating large amounts of DNA data. Cybergenetics has adapted TrueAllele for this high-throughput technology and validated it on complex mixture data.
Most forensic DNA labs use “data” and “reporting” thresholds because their analysis software must ignore input and discard output. But TrueAllele’s more advanced modeling inputs all data and reports all results. We have innovated reliable accuracy measures that let us deliver court-ready DNA reports on even the most complex data.
What do you see as the future of forensic DNA analysis, and how is Cybergenetics preparing to stay ahead in this evolving field?
Information is the future of forensic science. Most of the field isn’t quite there yet, but Cybergenetics arrived over twenty years ago.
I see reliable computers eliminating tedious and uninformative data review. DNA analysts now spend considerable time handpicking evidence data for software input. TrueAllele dispenses with subjective human protocols, delivering unbiased DNA connection information.
Cybergenetics has long delivered the world’s most informative forensic DNA database. It connects evidence to people, to mixtures, and even to families. We used the TrueAllele database for the WTC disaster. And for finding drug counterfeiters. Our database can repurpose old “uninterpretable” crime scene data for DNA investigation, finding hundreds of new leads.
