Identification of structural variation in mouse genomes

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Identification of structural variation in mouse genomes

Structural variation is variation in structure of DNA regions affecting DNA sequence length and/or orientation. It generally includes deletions, insertions, copy-number gains, inversions, and transposable elements. Traditionally, the identification of structural variation in genomes has been challenging. However, with the recent advances in high-throughput DNA sequencing and paired-end mapping ...

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An integrated map of structural variation in 2,504 human genomes

Structural variants are implicated in numerous diseases andmake up themajority of varying nucleotides among human genomes.Herewedescribe an integrated set of eight structural variant classes comprising both balanced andunbalanced variants, which we constructed using short-read DNA sequencing data and statistically phased onto haplotype blocks in 26 human populations. Analysing this set, we iden...

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An integrated map of structural variation in 2,504 human genomes

Structural variants are implicated in numerous diseases andmake up themajority of varying nucleotides among human genomes.Herewedescribe an integrated set of eight structural variant classes comprising both balanced andunbalanced variants, which we constructed using short-read DNA sequencing data and statistically phased onto haplotype blocks in 26 human populations. Analysing this set, we iden...

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An integrated map of structural variation in 2,504 human genomes

Structural variants are implicated in numerous diseases andmake up themajority of varying nucleotides among human genomes.Herewedescribe an integrated set of eight structural variant classes comprising both balanced andunbalanced variants, which we constructed using short-read DNA sequencing data and statistically phased onto haplotype blocks in 26 human populations. Analysing this set, we iden...

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ژورنال

عنوان ژورنال: Frontiers in Genetics

سال: 2014

ISSN: 1664-8021

DOI: 10.3389/fgene.2014.00192