Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

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http://www.wikidata.org/entity/Q42373276
Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements.2016 William Allan Award: Human Disease Research: Genetic Cycling and Re-cycling.Genomic disorders 20 years on-mechanisms for clinical manifestations.Identification of balanced chromosomal rearrangements previously unknown among participants in the 1000 Genomes Project: implications for interpretation of structural variation in genomes and the future of clinical cytogenetics.3C-PCR: a novel proximity ligation-based approach to phase chromosomal rearrangement breakpoints with distal allelic variants.Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin.Balanced Chromosomal Rearrangement Detection by Low-Pass Whole-Genome Sequencing.Prenatal diagnosis by chromosomal microarray analysis.Inheritance of a Balanced t(12;20)(q24.33;p12.2) and Unbalanced der(13)t(7;13)(p21.3;q33.2) from a Maternally Derived Double Balanced Translocation Carrier.Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term Outcomes
P2860

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis

Item
http://www.wikidata.org/entity/Q42373276
description
2016 nî lūn-bûn
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2016年の論文
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2016年論文
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2016年論文
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2016年論文
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2016年論文
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2016年論文
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2016年论文
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2016年论文
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2016年论文
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name
Structural Chromosomal Rearran ...... quencing in Prenatal Diagnosis
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Structural Chromosomal Rearran ...... quencing in Prenatal Diagnosis
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type
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Structural Chromosomal Rearran ...... quencing in Prenatal Diagnosis
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Structural Chromosomal Rearran ...... quencing in Prenatal Diagnosis
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prefLabel
Structural Chromosomal Rearran ...... quencing in Prenatal Diagnosis
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Structural Chromosomal Rearran ...... quencing in Prenatal Diagnosis
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Structural Chromosomal Rearran ...... quencing in Prenatal Diagnosis
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P2860
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P356
10.1016/J.AJHG.2016.08.022
P407
P433
P478
P50
P577
P698
P932