List of works - Devika Ganesamoorthy

A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33

scientific article (publication date: 27 August 2010)

Application of a new molecular technique for the genetic evaluation of products of conception

scientific article published on 20 November 2012

Complete Genome Sequence of Klebsiella quasipneumoniae subsp. similipneumoniae Strain ATCC 700603

scientific article (publication date: 26 May 2016)

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

scientific article

Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.

scientific article

Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays

scientific article published on 19 September 2011

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

scientific article

GtTR: Bayesian estimation of absolute tandem repeat copy number using sequence capture and high throughput sequencing

scholarly article by Devika Ganesamoorthy published in July 2018

GtTR: Bayesian estimation of absolute tandem repeat copy number using sequence capture and high throughput sequencing

High-resolution microarray in the assessment of fetal anomalies detected by ultrasound

scientific article published on 01 February 2014

Investigating and correcting plasma DNA sequencing coverage bias to enhance aneuploidy discovery

scientific article published on 29 January 2014

Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?

scientific article

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

scientific article

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

scientific article published on 26 March 2013

Multifactorial Chromosomal Variants Regulate Polymyxin Resistance In Extensively Drug-Resistant Klebsiella pneumoniae

Nanopore sequencing as a scalable, cost-effective platform for analyzing polyclonal vector integration sites following clinical T cell therapy

scientific article published on 01 June 2020

Octapeptin C4 Induces Less Resistance and Novel Mutations in an Epidemic Carbapenemase-producing Klebsiella pneumoniae ST258 Clinical Isolate Compared to Polymyxins

article by Miranda Pitt et al published 28 April 2018 in bioRxiv

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

scientific article

Phenotypic variability of distal 22q11.2 copy number abnormalities

article

Profiling copy number alterations in cell-free tumour DNA using a single-reference

Realtime analysis and visualization of MinION sequencing data with npReader.

scientific article

Scaffolding and Completing Genome Assemblies in Real-time with Nanopore Sequencing

Scaffolding and completing genome assemblies in real-time with nanopore sequencing

scientific article published on 20 February 2017

Simulating The Dynamics Of Targeted Capture Sequencing With CapSim

article

Streaming algorithms for identification of pathogens and antibiotic resistance potential from real-time MinION(TM) sequencing

scientific article published on 26 July 2016

Use of copy number deletion polymorphisms to assess DNA chimerism

scientific article published on 4 June 2014

Whole genome deep sequencing analysis of cell-free DNA in samples with low tumour content

scientific article published on 20 January 2022

npInv: accurate detection and genotyping of inversions mediated by non-allelic homologous recombination using long read sub-alignment

sCNAphase: using haplotype resolved read depth to genotype somatic copy number alterations from low cellularity aneuploid tumors

scientific article

List of works by Devika Ganesamoorthy

A genotype-first approach for the molecular and clinical characterization of uncommon de novo microdeletion of 20q13.33

Application of a new molecular technique for the genetic evaluation of products of conception

Complete Genome Sequence of Klebsiella quasipneumoniae subsp. similipneumoniae Strain ATCC 700603

Detection of cryptic pathogenic copy number variations and constitutional loss of heterozygosity using high resolution SNP microarray analysis in 117 patients referred for cytogenetic analysis and impact on clinical practice.

Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.

Extending the scope of diagnostic chromosome analysis: detection of single gene defects using high-resolution SNP microarrays

Further molecular and clinical delineation of co-locating 17p13.3 microdeletions and microduplications that show distinctive phenotypes

GtTR: Bayesian estimation of absolute tandem repeat copy number using sequence capture and high throughput sequencing

GtTR: Bayesian estimation of absolute tandem repeat copy number using sequence capture and high throughput sequencing

High-resolution microarray in the assessment of fetal anomalies detected by ultrasound

Investigating and correcting plasma DNA sequencing coverage bias to enhance aneuploidy discovery

Meeting the challenge of interpreting high-resolution single nucleotide polymorphism array data in prenatal diagnosis: does increased diagnostic power outweigh the dilemma of rare variants?

Methylation of novel markers of fragile X alleles is inversely correlated with FMRP expression and FMR1 activation ratio.

Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature

Multifactorial Chromosomal Variants Regulate Polymyxin Resistance In Extensively Drug-Resistant Klebsiella pneumoniae

Nanopore sequencing as a scalable, cost-effective platform for analyzing polyclonal vector integration sites following clinical T cell therapy

Octapeptin C4 Induces Less Resistance and Novel Mutations in an Epidemic Carbapenemase-producing Klebsiella pneumoniae ST258 Clinical Isolate Compared to Polymyxins

Pathogenic aberrations revealed exclusively by single nucleotide polymorphism (SNP) genotyping data in 5000 samples tested by molecular karyotyping

Phenotypic variability of distal 22q11.2 copy number abnormalities

Profiling copy number alterations in cell-free tumour DNA using a single-reference

Realtime analysis and visualization of MinION sequencing data with npReader.

Scaffolding and Completing Genome Assemblies in Real-time with Nanopore Sequencing

Scaffolding and completing genome assemblies in real-time with nanopore sequencing

Simulating The Dynamics Of Targeted Capture Sequencing With CapSim

Streaming algorithms for identification of pathogens and antibiotic resistance potential from real-time MinION(TM) sequencing

Use of copy number deletion polymorphisms to assess DNA chimerism

Whole genome deep sequencing analysis of cell-free DNA in samples with low tumour content

npInv: accurate detection and genotyping of inversions mediated by non-allelic homologous recombination using long read sub-alignment

sCNAphase: using haplotype resolved read depth to genotype somatic copy number alterations from low cellularity aneuploid tumors