GeneDx Announces New Tool to Help Harness Human Pangenome Diversity for Clinical Interpretation of Variants
26 Giugno 2023 - 10:01PM
GeneDx (Nasdaq: WGS), a leader in delivering improved health
outcomes through genomic and clinical insights, today published a
paper in Nature Methods, titled “Multiscale analysis of pangenomes
enables improved representation of genomic diversity for repetitive
and clinically relevant genes,” in which researchers developed a
new computational tool, the PanGenome Research-Tool Kit (PGR-TK),
for scalable analysis of clinically relevant genes that were
previously too complex to analyze.
“While new human pangenomes released last month by the Human
Pangenome Reference Consortium inform a more comprehensive human
genome reference, advanced tools are required to visualize the
complex genetic structure and genetic variation across these
diverse genome sequences,” said Chen-Shan Chin, Ph.D., lead study
author and Vice President, Genomic Technology and Algorithms at
GeneDx. “The PGR-TK overcomes the limitations of other
visualization graphs and helps resolve and visualize the most
complex regions of the human genome that often affect multiple
medical important phenotypes.”
In analyzing the effectiveness of the PGR-TK, researchers
applied the technology’s graph decomposition methods to the
Y-chromosome gene, DAZ1/DAZ2/DAZ3/DAZ4, of which structural
variants have been linked to male infertility, and X-chromosome
genes OPN1LW and OPN1MW, linked to eye disorders. The analysis
showcased the ability of the PGR-TK to access and interpret 395
challenging but medically relevant genes previously
inaccessible.
"The PGR-TK implements a novel algorithm that reveals fine
structures in complex segmental duplications. It is the most
comprehensive yet intuitive tool for studying these challenging
regions and their possible association with phenotypic traits,”
said Heng Li, Ph.D., Associate Professor, Dana-Farber Cancer
Institute and Harvard Medical School.
The PGR-TK is a software package with tools and algorithms to
build an indexed sequence database that examines genetic sequences
or regions with large-scale structural variations. This framework
is scalable and enables analysis of multiple samples at varying
resolution levels by adopting different parameters to facilitate
exploratory analysis.
“I'm excited about new efficient methods to analyze and
visualize the pangenome that can help researchers understand the
causes of serious genetic diseases,” said Justin Zook, Ph.D.,
co-author and Co-Leader of the Biomarker and Genomic Sciences Group
at the National Institute of Standards and Technology (NIST). “They
will also help us expand NIST's Genome in a Bottle benchmarks for
understanding accuracy of methods in complex, medically relevant
regions of the genome."
About GeneDxGeneDx (Nasdaq: WGS) delivers
personalized and actionable health insights to inform diagnosis,
direct treatment and improve drug discovery. The company is
uniquely positioned to accelerate the use of genomic and
large-scale clinical information to enable precision medicine as
the standard of care. GeneDx is at the forefront of transforming
healthcare through its industry-leading exome and genome testing
and interpretation, fueled by one of the world’s largest, rare
disease data sets. For more information, please visit genedx.com
and connect with us on LinkedIn, Facebook, Twitter, and
Instagram.
Investor Relations Contact:Tricia
TruehartInvestors@GeneDx.com
Media Contact:Maurissa MessierPress@GeneDx.com
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