Structural variation in the sequencing era
Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …
historically difficult due to limitations inherent to available genome technologies. Detection …
Mechanisms underlying structural variant formation in genomic disorders
CMB Carvalho, JR Lupski - Nature Reviews Genetics, 2016 - nature.com
With the recent burst of technological developments in genomics, and the clinical
implementation of genome-wide assays, our understanding of the molecular basis of …
implementation of genome-wide assays, our understanding of the molecular basis of …
Segmental duplications and their variation in a complete human genome
MR Vollger, X Guitart, PC Dishuck, L Mercuri… - Science, 2022 - science.org
Despite their importance in disease and evolution, highly identical segmental duplications
(SDs) are among the last regions of the human reference genome (GRCh38) to be fully …
(SDs) are among the last regions of the human reference genome (GRCh38) to be fully …
[HTML][HTML] Most large structural variants in cancer genomes can be detected without long reads
Short-read sequencing is the workhorse of cancer genomics yet is thought to miss many
structural variants (SVs), particularly large chromosomal alterations. To characterize missing …
structural variants (SVs), particularly large chromosomal alterations. To characterize missing …
[HTML][HTML] Recurrent inversion polymorphisms in humans associate with genetic instability and genomic disorders
Unlike copy number variants (CNVs), inversions remain an underexplored genetic variation
class. By integrating multiple genomic technologies, we discover 729 inversions in 41 …
class. By integrating multiple genomic technologies, we discover 729 inversions in 41 …
[HTML][HTML] Characterizing the major structural variant alleles of the human genome
PA Audano, A Sulovari, TA Graves-Lindsay… - Cell, 2019 - cell.com
In order to provide a comprehensive resource for human structural variants (SVs), we
generated long-read sequence data and analyzed SVs for fifteen human genomes. We …
generated long-read sequence data and analyzed SVs for fifteen human genomes. We …
Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly
VA Schneider, T Graves-Lindsay, K Howe… - Genome …, 2017 - genome.cshlp.org
The human reference genome assembly plays a central role in nearly all aspects of today's
basic and clinical research. GRCh38 is the first coordinate-changing assembly update since …
basic and clinical research. GRCh38 is the first coordinate-changing assembly update since …
Haplotyping germline and cancer genomes with high-throughput linked-read sequencing
Haplotyping of human chromosomes is a prerequisite for cataloguing the full repertoire of
genetic variation. We present a microfluidics-based, linked-read sequencing technology that …
genetic variation. We present a microfluidics-based, linked-read sequencing technology that …
A copy number variation map of the human genome
A major contribution to the genome variability among individuals comes from deletions and
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …
duplications—collectively termed copy number variations (CNVs)—which alter the diploid …
[HTML][HTML] Genomic analysis in the age of human genome sequencing
Affordable genome sequencing technologies promise to revolutionize the field of human
genetics by enabling comprehensive studies that interrogate all classes of genome …
genetics by enabling comprehensive studies that interrogate all classes of genome …