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Inanc Birol

Canada
As seen in: Nature, Wiley Online Library, BioRxiv, The World Bank Research Observer, medRxiv, F1000Research
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Articles

Population-scale disease-associated tandem repeat analysis reveals locus and ancestry-specific insights

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By Indhu-Shree Rajan-Babu, Readman Chiu, Ben Weisburd, Inanc Birol, Jan. M. Friedman, Iris Caglayan
| Nature Verified
Abstract Tandem repeat (TR) expansions, including short TRs (motifs ≤6 bp) and variable number TRs (motifs >6 bp), underlie many monogenic disorders, with variable length and sequence influencing pathogenicity, penetrance, severity, and onset. Accurate genotype-phenotype correlation and disease prevalence estimation require characterization beyond repeat length.
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ntSynt-viz: Visualizing synteny patterns across multiple genomes

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By Lauren Coombe, Rene Warren, Inanc Birol
| BioRxiv
Abstract With the explosion of chromosome-scale genome assemblies being generated in recent years, there is vast potential for comparative genomics analyses through detecting multi-genome synteny. While existing tools can detect synteny blocks between multiple genomes, their text-based outputs make it challenging to intuitively explore large-scale synteny patterns.
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A comprehensive tandem repeat catalog of the human genome

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By Readman Chiu, Jan M Friedman, Inanc Birol
| medRxiv
The authors have declared no competing interest. This study was supported by the Canadian Institutes of Health Research (CIHR) Project Grant (PJT-169074). I.-S.R.-B. is funded by the CIHR Research Excellence, Diversity, and Independence (REDI) Early Career Transition Award (DI2-190730). I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained.
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