Carolina Lascelles

St James's University Hospital, West Yorkshire
Leeds, ENG LS97TF, United Kingdom

Last Updated: 09/26/2026

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Found 9 publications

AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data.

AgileMultiIdeogram: Rapid Identification and Visualization of Autozygous Regions Using Illumina Short-Read Sequencing Data.

Journal: Biology

Published: April 11, 2025

Utilization of long-read sequencing for the detection of structural rearrangements with AgileStructure.

Utilization of long-read sequencing for the detection of structural rearrangements with AgileStructure.

Journal: Bioinformatics (Oxford, England)

Published: March 17, 2025

Single-cell nanobiopsy enables multigenerational longitudinal transcriptomics of cancer cells.

Single-cell nanobiopsy enables multigenerational longitudinal transcriptomics of cancer cells.

Journal: Science advances

Published: March 06, 2024

m6aViewer: software for the detection, analysis, and visualization of N6-methyladenosine peaks from m6A-seq/ME-RIP sequencing data.

m6aViewer: software for the detection, analysis, and visualization of N6-methyladenosine peaks from m6A-seq/ME-RIP sequencing data.

Journal: RNA (New York, N.Y.)

Published: July 06, 2016

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome.

A Chromosome 7 Pericentric Inversion Defined at Single-Nucleotide Resolution Using Diagnostic Whole Genome Sequencing in a Patient with Hand-Foot-Genital Syndrome.

Journal: PloS one

Published: March 24, 2016

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia.

Deficiency of the myogenic factor MyoD causes a perinatally lethal fetal akinesia.

Journal: Journal of medical genetics

Published: November 04, 2015

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.

Enhanced diagnostic yield in Meckel-Gruber and Joubert syndrome through exome sequencing supplemented with split-read mapping.

Journal: BMC medical genetics

Published: September 16, 2015

OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization.

OVA: integrating molecular and physical phenotype data from multiple biomedical domain ontologies with variant filtering for enhanced variant prioritization.

Journal: Bioinformatics (Oxford, England)

Published: May 19, 2015

Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data.

Rapid Detection of Rare Deleterious Variants by Next Generation Sequencing with Optional Microarray SNP Genotype Data.

Journal: Human mutation

Published: March 30, 2015

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Last Updated: 09/26/2026