Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.

Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.

Item
http://www.wikidata.org/entity/Q35862063
Major influence of repetitive elements on disease-associated copy number variants (CNVs)Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand MalformationCopy number analysis of the low-copy repeats at the primate NPHP1 locus by array comparative genomic hybridization.Alternate-locus aware variant calling in whole genome sequencing.Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy.The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison.Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variations.NPHP1 (Nephrocystin-1) Gene Deletions Cause Adult-Onset ESRD.Recurrent Rearrangements of Human Amylase Genes Create Multiple Independent CNV Series.The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease
P2860

Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates.

Item
http://www.wikidata.org/entity/Q35862063
description
2015 nî lūn-bûn
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2015年の論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年論文
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2015年论文
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2015年论文
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2015年论文
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Comparative Genomic Analyses o ...... egional Evolution in Primates.
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Comparative Genomic Analyses o ...... egional Evolution in Primates.
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Comparative Genomic Analyses o ...... egional Evolution in Primates.
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Comparative Genomic Analyses o ...... egional Evolution in Primates.
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Comparative Genomic Analyses o ...... egional Evolution in Primates.
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Comparative Genomic Analyses o ...... egional Evolution in Primates.
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Comparative Genomic Analyses o ...... Regional Evolution in Primates
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10.1371/JOURNAL.PGEN.1005686
P433
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P5875
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P932