The de novo directional genomic hybridization technology is designed to enable the measurement of simple, complex, and heterogenous structural variants.
In the next round of the eMERGE program, NIH is supporting development of methodologies for integrating genotypic and phenotypic risk scoring into clinical care.
Using ultra-long read and other sequence data, researchers came up with a de novo X chromosome assembly that covers parts of the sex chromosome missed in the past.
In PNAS this week: genetic variants linked to a pediatric periodic fever syndrome, TERT promoter mutations influencing BRAF and MEK inhibitor response, and more.
