Mark Andrew DePristo

Title: Mark Andrew DePristo: Innovator in Next-Generation Sequencing

Introduction

Mark Andrew DePristo is a prominent inventor based in Palo Alto, California. He has made significant contributions to the field of genetics and bioinformatics, particularly in the area of next-generation sequencing. With a total of four patents to his name, DePristo's work is at the forefront of technological advancements in genetic analysis.

Latest Patents

One of DePristo's latest patents focuses on detecting false positive variant calls in next-generation sequencing. This innovative method involves obtaining a plurality of read pileup windows associated with a first sample genome. The process includes acquiring labels for each reference nucleotide position, indicating whether it is a known variant or a non-variant. Furthermore, the method trains a neural network based on data from the read pileup windows and their corresponding labels. This trained neural network is then utilized to assess the likelihood that a read pileup window from a second sample genome represents a variant.

Career Highlights

DePristo is currently employed at Verily Life Sciences LLC, where he continues to push the boundaries of genetic research and technology. His work has been instrumental in enhancing the accuracy of genetic variant detection, which is crucial for various applications in medicine and research.

Collaborations

Throughout his career, DePristo has collaborated with notable colleagues, including Ryan Poplin and Mauricio Carneiro. These partnerships have fostered a collaborative environment that encourages innovation and the sharing of ideas.

Conclusion

Mark Andrew DePristo is a key figure in the realm of next-generation sequencing, with a focus on improving the accuracy of genetic variant detection. His contributions through patents and collaborations continue to shape the future of genetic research and technology.