Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP.

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Recent advances in the genetic neuropathies.Ximmer: A system for improving accuracy and consistency of CNV calling from exome data

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Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP.

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Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP.

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Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP.

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Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP.

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Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP.

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B-O Choi

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B-Y Kim

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H-M Woo

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H-Y Jo

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K W Chung

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M H Han

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M-H Park

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S K Koo

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Computational tools for copy number variation (CNV) detection using next-generation sequencing data: features and perspectives

The complete genome of an individual by massively parallel DNA sequencing

Targeted capture and massively parallel sequencing of 12 human exomes

The landscape of somatic copy-number alteration across human cancers.

Copy number variation detection and genotyping from exome sequence data.

CEQer: a graphical tool for copy number and allelic imbalance detection from whole-exome sequencing data.

The 1.4-Mb CMT1A duplication/HNPP deletion genomic region reveals unique genome architectural features and provides insights into the recent evolution of new genes.

Copy number variation upstream of PMP22 in Charcot-Marie-Tooth disease

Genome sequencing identifies major causes of severe intellectual disability.

Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV

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177-181

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scholarly article

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10.1111/CGE.12714

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2015-12-13T00:00:00Z

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Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP.

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P2860

P2860

Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP.

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P1476

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P698