Genome-wide association testing beyond SNPs
Decades of genetic association testing in human cohorts have provided important insights
into the genetic architecture and biological underpinnings of complex traits and diseases …
into the genetic architecture and biological underpinnings of complex traits and diseases …
Long-read sequencing and structural variant characterization in 1,019 samples from the 1000 Genomes Project
S Schloissnig, S Pani, B Rodriguez-Martin, J Ebler… - bioRxiv, 2024 - biorxiv.org
Structural variants (SVs) contribute significantly to human genetic diversity and disease–.
Previously, SVs have remained incompletely resolved by population genomics, with short …
Previously, SVs have remained incompletely resolved by population genomics, with short …
Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR
The lack of population-scale databases hampers research and diagnostics for medically
relevant tandem repeats and repeat expansions. We attempt to fill this gap using our …
relevant tandem repeats and repeat expansions. We attempt to fill this gap using our …
Medically relevant tandem repeats in nanopore sequencing of control cohorts
Research and diagnostics for medically relevant tandem repeats and repeat expansions are
hampered by the lack of population-scale databases. We attempt to fill this gap using our …
hampered by the lack of population-scale databases. We attempt to fill this gap using our …
A Specialized Reference Panel with Structural Variants Integration for Improving Genotype Imputation in Alzheimer's Disease and Related Dementias (ADRD)
We developed an imputation panel for Alzheimer's disease (AD) and related dementias
(ADRD) using whole-genome sequencing (WGS) data from the Alzheimer's Disease …
(ADRD) using whole-genome sequencing (WGS) data from the Alzheimer's Disease …