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Multiplex generation and single-cell analysis of structural variants in mammalian genomes.

Science (New York, N.Y.) - 31 Jan 2025

Pinglay Sudarshan, Lalanne Jean-Benoît, Daza Riza M, Kottapalli Sanjay, Quaisar Faaiz, Koeppel Jonas, Garge Riddhiman K, Li Xiaoyi, Lee David S, Shendure Jay

Abstract excerpt

Studying the functional consequences of structural variants (SVs) in mammalian genomes is challenging because (i) SVs arise much less commonly than single-nucleotide variants or small indels and (ii) methods to generate, map, and characterize SVs in model systems are underdeveloped. To address these challenges, we developed Genome-Shuffle-seq, a method that enables the multiplex generation and mapping of...

Topics

Animals
Humans
Mice
Chromatin
Genome
Genomic Structural Variation
Mammals
Single-Cell Analysis
Transcriptome
Polymorphism, Single Nucleotide
Genome, Human

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 39883753
DOI: 10.1126/science.ado5978
PMCID: PMC11931979

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