A survey of algorithms for the detection of genomic structural variants from long-read sequencing data
As long-read sequencing technologies are becoming increasingly popular, a number of
methods have been developed for the discovery and analysis of structural variants (SVs) …
methods have been developed for the discovery and analysis of structural variants (SVs) …
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
Summary The 1000 Genomes Project (1kGP) is the largest fully open resource of whole-
genome sequencing (WGS) data consented for public distribution without access or use …
genome sequencing (WGS) data consented for public distribution without access or use …
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …
understanding human health and disease. Recent technological advances have made it …
A structural variation reference for medical and population genetics
Structural variants (SVs) rearrange large segments of DNA and can have profound
consequences in evolution and human disease,. As national biobanks, disease-association …
consequences in evolution and human disease,. As national biobanks, disease-association …
Multi-platform discovery of haplotype-resolved structural variation in human genomes
The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a …
data limits studies of human genetic diversity and disease association. Here, we apply a …
Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies
Virtually all genome sequencing efforts in national biobanks, complex and Mendelian
disease programs, and medical genetic initiatives are reliant upon short-read whole …
disease programs, and medical genetic initiatives are reliant upon short-read whole …
Integrating whole-genome sequencing with multi-omic data reveals the impact of structural variants on gene regulation in the human brain
Structural variants (SVs), which are genomic rearrangements of more than 50 base pairs,
are an important source of genetic diversity and have been linked to many diseases …
are an important source of genetic diversity and have been linked to many diseases …
Identification and characterization of occult human-specific LINE-1 insertions using long-read sequencing technology
Abstract Long Interspersed Element-1 (LINE-1) retrotransposition contributes to inter-and
intra-individual genetic variation and occasionally can lead to human genetic disorders …
intra-individual genetic variation and occasionally can lead to human genetic disorders …
Cas9 targeted enrichment of mobile elements using nanopore sequencing
Mobile element insertions (MEIs) are repetitive genomic sequences that contribute to
genetic variation and can lead to genetic disorders. Targeted and whole-genome …
genetic variation and can lead to genetic disorders. Targeted and whole-genome …
Comparison and benchmark of structural variants detected from long read and long-read assembly
Structural variant (SV) detection is essential for genomic studies, and long-read sequencing
technologies have advanced our capacity to detect SVs directly from read or de novo …
technologies have advanced our capacity to detect SVs directly from read or de novo …