Whole-genome sequencing overcomes pseudogene homology to diagnose autosomal dominant polycystic kidney disease

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2016 nî lūn-bûn

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2016年の論文

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2016年学术文章

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Whole-genome sequencing overco ...... nant polycystic kidney disease

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Whole-genome sequencing overco ...... nant polycystic kidney disease

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Whole-genome sequencing overco ...... nant polycystic kidney disease

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Whole-genome sequencing overco ...... nant polycystic kidney disease

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Whole-genome sequencing overco ...... nant polycystic kidney disease

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Whole-genome sequencing overco ...... nant polycystic kidney disease

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P1476

Whole-genome sequencing overco ...... nant polycystic kidney disease

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P2093

André Minoche

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John Shine

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Mark J McCabe

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Timothy J Furlong

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Yvonne Hort

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P2860

LUMPY: a probabilistic framework for structural variant discovery.

CNVnator: an approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

A framework for variation discovery and genotyping using next-generation DNA sequencing data

SpeedSeq: ultra-fast personal genome analysis and interpretation.

Molecular diagnosis of autosomal dominant polycystic kidney disease using next-generation sequencing.

Homologues to the first gene for autosomal dominant polycystic kidney disease are pseudogenes.

Chromosomal evolution of the PKD1 gene family in primates.

Analyzing and minimizing PCR amplification bias in Illumina sequencing libraries.

Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications

Identification of gene mutations in autosomal dominant polycystic kidney disease through targeted resequencing.

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ejhg.2016.48

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1584-1590

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scholarly article

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10.1038/EJHG.2016.48

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P478

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Marcel E. Dinger

Mark J. Cowley

Amali Mallawaarachchi

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2016-05-11T00:00:00Z

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27165007

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autosomal dominant polycystic kidney disease

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5110048

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