Montefiore Medical Center
Pacific Biosciences, GeneDx, Google Health Partner With New York Center for Rare Diseases
A pilot project will perform genomic testing on 50 patient-parent trios to see if PacBio's long-read sequencing can identify genetic alterations.
Single-Cell Sequencing Study Finds Increased Single-Nucleotide Mutation Rate in Lungs of Smokers
This mutation rate increased linearly until 23 pack-years of exposure before plateauing, suggesting there may be mechanisms limiting mutation accumulation.
The study, which is recruiting 1,130 children with undiagnosed genetic diseases, is testing two web-based interactive tools.
Algorithmic Approach Looks to Improve Identification of Misdiagnosis
A study led by Johns Hopkins describes a method for automating slow, inaccurate manual chart review when searching for signs of misdiagnosis.
Teams from France and Germany disputed the notion that the 21-gene signature is needed to identify low-risk breast cancer patients who can be spared chemotherapy.