about
LUMPY: a probabilistic framework for structural variant discovery.Mutations in DCHS1 cause mitral valve prolapseSpeedSeq: ultra-fast personal genome analysis and interpretation.Mechanisms for Structural Variation in the Human GenomeComplex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integrationAssessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.The genome of the vervet (Chlorocebus aethiops sabaeus)Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilitiesExonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminusHighly penetrant alterations of a critical region including BDNF in human psychopathology and obesityMolecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs.The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.The impact of structural variation on human gene expression.Mapping and characterization of structural variation in 17,795 human genomes
P50
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P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Colby Chiang
@ast
Colby Chiang
@en
Colby Chiang
@es
Colby Chiang
@nl
Colby Chiang
@sl
type
label
Colby Chiang
@ast
Colby Chiang
@en
Colby Chiang
@es
Colby Chiang
@nl
Colby Chiang
@sl
prefLabel
Colby Chiang
@ast
Colby Chiang
@en
Colby Chiang
@es
Colby Chiang
@nl
Colby Chiang
@sl
P106
P31
P496
0000-0002-4113-6065