Colby Chiang

Boston Children's Hospital — United States

Biochemistry, Genetics and Molecular Biology · Life Sciences

27h-index8.0kcitations50works0.02yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(20), Genomics and Rare Diseases(10), Genomics and Phylogenetic Studies(8), Genomics and Chromatin Dynamics(8), Genetic Associations and Epidemiology(8)

Publications48 total

Pervasive correlations between causal disease effects of proximal SNPs vary with functional annotations and implicate stabilizing selection
Research Square (Research Square)·2023· 2 citedOpen Access
Pervasive correlations between causal disease effects of proximal SNPs vary with functional annotations and implicate stabilizing selection
2023· 2 citedOpen Access
Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes
Genome Research·2021· 103 citedOpen Access
Association of structural variation with cardiometabolic traits in Finns
The American Journal of Human Genetics·2021· 45 citedOpen Access
Association of structural variation with cardiometabolic traits in Finns
2021
Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes
2021· 17 citedOpen Access
Association of Structural Variation with Cardiometabolic Traits in Finns
2020· 2 citedOpen Access
Mapping and characterization of structural variation in 17,795 human genomes
Nature·2020· 336 citedOpen Access
SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome
UNC Libraries·2020Open Access
Implication of LRRC4C and DPP6 in neurodevelopmental disorders
UNC Libraries·2020· 3 citedOpen Access
Author Correction: Exome sequencing of Finnish isolates enhances rare-variant association power
Nature·2019· 6 citedOpen Access
Exome sequencing of Finnish isolates enhances rare-variant association power
Nature·2019· 210 citedOpen Access
svtools: population-scale analysis of structural variation
Bioinformatics·2019· 79 citedOpen Access
Exome sequencing of Finnish isolates enhances rare-variant association power
RePEc: Research Papers in Economics·2019· 24 cited
Mapping and characterization of structural variation in 17,795 deeply sequenced human genomes
2018· 27 citedOpen Access
svtools: population-scale analysis of structural variation
2018· 2 citedOpen Access
Exome sequencing identifies high-impact trait-associated alleles enriched in Finns
2018· 1 citedOpen Access
Exploring the phenotypic consequences of tissue specific gene expression variation inferred from GWAS summary statistics
Nature Communications·2018· 1.2k citedOpen Access
Identification of Drivers of Aneuploidy in Breast Tumors
Cell Reports·2018· 60 citedOpen Access
The impact of rare variation on gene expression across tissues
Nature·2017· 283 citedOpen Access
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Frequent Co-authors

Ira M. Hall(23), Michael E. Talkowski(20), Cynthia C. Morton(16), James F. Gusella(16), Ian Blumenthal(11), Carrie Hanscom(11), Haley Abel(11), David E. Larson(11), Alexandra J. Scott(10), Carl Ernst(10), Krishna Kanchi(9), Nathan O. Stitziel(9), Yiping Shen(8), Jill A. Rosenfeld(8), Nelson B. Freimer(8), Ryan M. Layer(7), Amelia M. Lindgren(7), Shahrin Pereira(7), Lisa G. Shaffer(7), Ryan L. Collins(7)