Article

Impact and characterization of serial structural variations across humans and great apes

2023-03-12

Abstract excerpt

Modern sequencing technology enables the detection of complex structural variation (SV) across genomes. However, extensive DNA rearrangements arising through series of mutations, a phenomenon we term serial SV (sSV), remain understudied since their complexity poses a challenge for SV discovery. Here, we present NAHRwhals ( https://github.com/WHops/NAHRwhals ), a method to infer repeat-mediated series of SVs in lo...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 81cb7aae-a1a2-5628-b486-a72339440671
DOI: 10.1101/2023.03.09.531868

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Impact and characterization of serial structural variations across humans and great apesDOI 10.1101/2023.03.09.531868Read

Structurally divergent and recurrently mutated regions of primate genomesSemantic proximity Read

Structural variation in 1,019 diverse humans based on long-read sequencing.Semantic proximity Read

Population Structure, Stratification, and Introgression of Human Structural Variation.Semantic proximity Read

Long-read sequencing and structural variant characterization in 1,019 samples from the 1000 Genomes ProjectSemantic proximity Read

The evolution of structural variation across 500 million years of vertebrate evolutionSemantic proximity Read

Recurrent structural variation and recent turnover at the 17q21.31 locus in humans and great apesSemantic proximity Read

PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.Semantic proximity Read

Structural variation across 138,134 samples in the TOPMed consortiumSemantic proximity Read

Structural variation in humans and our primate kin in the era of telomere-to-telomere genomes and pangenomicsSemantic proximity Read

Multi-platform discovery of haplotype-resolved structural variation in human genomesSemantic proximity Read

PerSVade: Personalized Structural Variation detection in your species of interestSemantic proximity Read

Large complex structural rearrangements in human genomes harbor cryptic structuresSemantic proximity Read