2024
Resolving the 22q11.2 deletion using CTLR-Seq reveals chromosomal rearrangement mechanisms and individual variance in breakpoints
Zhou B, Purmann C, Guo H, Shin G, Huang Y, Pattni R, Meng Q, Greer S, Roychowdhury T, Wood R, Ho M, Dohna H, Abyzov A, Hallmayer J, Wong W, Ji H, Urban A. Resolving the 22q11.2 deletion using CTLR-Seq reveals chromosomal rearrangement mechanisms and individual variance in breakpoints. Proceedings Of The National Academy Of Sciences Of The United States Of America 2024, 121: e2322834121. PMID: 39042694, PMCID: PMC11295037, DOI: 10.1073/pnas.2322834121.Peer-Reviewed Original ResearchMeSH KeywordsChromosome BreakpointsChromosome DeletionChromosomes, Human, Pair 22CRISPR-Cas SystemsDiGeorge SyndromeGene RearrangementGenome, HumanHumansSequence Analysis, DNAConceptsLong-read sequencingPulse-field gel electrophoresisBase-pair resolutionDNA methylation patternsCell-type specific analysisCell type-specificChromosomal interactionsSequence assemblySegmental duplicationsGenome sequenceGenomic rearrangementsGenomic regionsChromosomal breakpointsHuman genomeGenomic recombinationMethylation patternsSequence analysisHaplotype-specificDeletion haplotypesGel electrophoresisGenomeAmplification-freeBreakpoint locationsMicrodeletion disorderType-specific
2013
Next-Generation Anchor Based Phylogeny (NexABP): Constructing phylogeny from Next-generation sequencing data
Roychowdhury T, Vishnoi A, Bhattacharya A. Next-Generation Anchor Based Phylogeny (NexABP): Constructing phylogeny from Next-generation sequencing data. Scientific Reports 2013, 3: 2634. PMID: 24022334, PMCID: PMC3769656, DOI: 10.1038/srep02634.Peer-Reviewed Original ResearchConceptsPhylogenetic analysisNext-generation sequencing datasetsWhole genome sequencesNGS dataNext-generation sequencing dataEvolutionary relationshipsStrains/isolatesPhylogenetic constructionDistinct lineagesReference genomeGenome sequenceSequencing datasetsSequencing dataEscherichia coliPhylogenyDifferent strainsVibrio choleraBootstrap analysisGenomeLineagesOrganismsColiInner branchesUnprecedented scalePathogens