Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...

MENLO PARK, Calif., Jan. 13, 2023 /PRNewswire/ -- PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today celebrated long-read sequencing being named ...

To understand more fully the role of RNA and its modifications in living systems, researchers will need robust, reproducible, and accessible tools and techniques capable of identifying all RNA ...

A new study shows that long-read sequencing has the potential to improve the rate of diagnosis while reducing the time to diagnosis from years to days -- in a single test and at a much lower cost. One ...

Whole genome sequencing (WGS) is not necessarily a solution for someone with a rare, monogenic disease. Indeed, more than half of families with suspected rare monogenic diseases do not have an answer ...

The idea for the LRGASP Consortium was originally discussed among scientists at a conference in 2019.

For decades, scientists have struggled to untangle the genetic complexity of crops with multiple chromosome sets. Now, researchers have unveiled a cost-effective sequencing method, dpMIG-seq, that ...

Gene expression has to be carefully regulated, or serious problems can arise. Many things can control the expression of genes, including chemical marks that affect the genome without changing the ...