Profiling the epigenome using long-read sequencing
The advent of single-molecule, long-read sequencing (LRS) technologies by Oxford
Nanopore Technologies and Pacific Biosciences has revolutionized genomics …
Nanopore Technologies and Pacific Biosciences has revolutionized genomics …
Potential clinical applications of advanced genomic analysis in cerebral palsy
SA Lewis, A Ruttenberg, T Iyiyol, N Kong, SC Jin… - …, 2024 - thelancet.com
Cerebral palsy (CP) has historically been attributed to acquired insults, but emerging
research suggests that genetic variations are also important causes of CP. While microarray …
research suggests that genetic variations are also important causes of CP. While microarray …
GREGoR: Accelerating Genomics for Rare Diseases
Rare diseases are collectively common, affecting approximately one in twenty individuals
worldwide. In recent years, rapid progress has been made in rare disease diagnostics due …
worldwide. In recent years, rapid progress has been made in rare disease diagnostics due …
Nanopore sequencing-based episignature detection
M Geysens, B Huremagic, E Souche, J Breckpot… - medRxiv, 2024 - medrxiv.org
Background: A subset of developmental disorders (DD) is characterized by disease-specific
genome-wide methylation changes. These episignatures inform about underlying …
genome-wide methylation changes. These episignatures inform about underlying …
A haplotype-resolved view of human gene regulation
MR Vollger, EG Swanson, SJ Neph, J Ranchalis… - bioRxiv, 2024 - biorxiv.org
Most human cells contain two non-identical genomes, and differences in their regulation
underlie human development and disease. We demonstrate that Fiber-seq Inferred …
underlie human development and disease. We demonstrate that Fiber-seq Inferred …