Nature

A persistent variant telomere sequence in a human pedigree

The Nature Index 2024 Research Leaders — previously known as Annual Tables — reveal the leading institutions and countries/territories in the natural and health sciences, according to their output in ...
Science Daily

Gene variant could protect against ultra-rare seizure disorder, fruit fly research finds

A combination of human pedigree analysis and fruit fly genetics has identified a gene variant that appears to prevent PIGA-CDG, a rare but serious seizure disorder. The findings could ultimately lead ...
Morningstar

Nature Methods Paper Leverages PacBio Sequencing Technology to Develop the Platinum Pedigree Benchmark, a New Standard for Accurate Characterization of Variation in the Human ...

The Platinum Pedigree dataset was developed using deep sequencing from three sequencing platforms across a 28-member, multi-generational family (CEPH-1463). By tracking the inheritance of genetic ...
Seeking Alpha

Nature Methods Paper Leverages PacBio Sequencing Technology to Develop the Platinum Pedigree Benchmark, a New Standard for Accurate Characterization of Variation in the Human ...

MENLO PARK, Calif., Aug. 04, 2025 (GLOBE NEWSWIRE) -- PacBio (PACB), a leading provider of high-quality, highly accurate sequencing platforms, today announced the results of a study published in ...