Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.

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http://www.wikidata.org/entity/Q36297533
Complex and Dynamic Chromosomal Rearrangements in a Family With Seemingly Non-Mendelian Inheritance of Dopa-Responsive Dystonia.Evaluation of Quality Assessment Protocols for High Throughput Genome Resequencing Data.Human disease genomics: from variants to biology.Whole genome sequencing in psychiatric disorders: the WGSPD consortium.Genomic disorders 20 years on-mechanisms for clinical manifestations.Catastrophic Unbalanced Genome Rearrangements Cause Somatic Loss of Berry Color in Grapevine.Identifying simultaneous rearrangements in cancer genomes.Identification of large rearrangements in cancer genomes with barcode linked reads.Analysis and Annotation of Whole-Genome or Whole-Exome Sequencing Derived Variants for Clinical Diagnosis.Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).A survey of localized sequence rearrangements in human DNA.Balanced Chromosomal Rearrangement Detection by Low-Pass Whole-Genome Sequencing.FGFR1 disruption identified by whole genome sequencing in a male with a complex chromosomal rearrangement and hypogonadotropic hypogonadism.Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly.An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder.Risks and Recommendations in Prenatally Detected De Novo Balanced Chromosomal Rearrangements from Assessment of Long-Term OutcomesStable transmission of an unbalanced chromosome 21 derived from chromoanasynthesis in a patient with a likely pathogenic variant
P2860

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome.

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http://www.wikidata.org/entity/Q36297533
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Defining the diverse spectrum ...... is in the morbid human genome.
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Defining the diverse spectrum ...... is in the morbid human genome.
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type
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Defining the diverse spectrum ...... is in the morbid human genome.
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Defining the diverse spectrum ...... is in the morbid human genome.
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Defining the diverse spectrum ...... is in the morbid human genome.
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Defining the diverse spectrum ...... is in the morbid human genome.
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P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P6179
P698
P932
P356
P1433
P1476
Defining the diverse spectrum ...... is in the morbid human genome.
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P6179
P698
P932