Utility of long-read sequencing for All of Us
Abstract The All of Us (AoU) initiative aims to sequence the genomes of over one million
Americans from diverse ethnic backgrounds to improve personalized medical care. In a …
Americans from diverse ethnic backgrounds to improve personalized medical care. In a …
Unveiling novel genetic variants in 370 challenging medically relevant genes using the long read sequencing data of 41 samples from 19 global populations
Y Ji, J Zhao, J Gong, FJ Sedlazeck, S Fan - Molecular Genetics and …, 2024 - Springer
Background: A large number of challenging medically relevant genes (CMRGs) are situated
in complex or highly repetitive regions of the human genome, hindering comprehensive …
in complex or highly repetitive regions of the human genome, hindering comprehensive …
Impact and characterization of serial structural variations across humans and great apes
Modern sequencing technology enables the detection of complex structural variation (SV)
across genomes. However, extensive DNA rearrangements arising through series of …
across genomes. However, extensive DNA rearrangements arising through series of …