Lista de obras - Lachlan Coin - Dominio Público Uruguay

A census of human cancer genes

artículo científico publicado en 2004

A complete high-quality MinION nanopore assembly of an extensively drug-resistant Mycobacterium tuberculosis Beijing lineage strain identifies novel variation in repetitive PE/PPE gene regions.

artículo científico publicado en 2018

A genome-wide association search for type 2 diabetes genes in African Americans

artículo científico publicado en 2012

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

artículo científico publicado en 2010

A new scoring system derived from base excess and platelet count at presentation predicts mortality in paediatric meningococcal sepsis

artículo científico publicado en 2013

A population model for genotyping indels from next-generation sequence data.

artículo científico publicado en 2012

An exome sequencing pipeline for identifying and genotyping common CNVs associated with disease with application to psoriasis

artículo científico publicado en 2012

Assembly of whole-chromosome pseudomolecules for polyploid plant genomes using outbred mapping populations

artículo científico publicado en 2020

Bioinformatics: living on the edge ⬇️

artículo científico publicado el 26 de octubre de 2012

Childhood tuberculosis is associated with decreased abundance of T cell gene transcripts and impaired T cell function.

artículo científico publicado en 2017

Chiron: Translating nanopore raw signal directly into nucleotide sequence using deep learning

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution.

artículo científico publicado en 2009

Correction: Genome-Wide Association Studies of Asthma in Population-Based Cohorts Confirm Known and Suggested Loci and Identify an Additional Association near HLA

artículo científico publicado en 2013

Cross-Border Movement of Highly Drug-Resistant Mycobacterium tuberculosis from Papua New Guinea to Australia through Torres Strait Protected Zone, 2010-2015

article

Demographic and motor features associated with the occurrence of neuropsychiatric and sleep complications of Parkinson's disease

artículo científico publicado en 2013

Detection of tuberculosis in HIV-infected and -uninfected African adults using whole blood RNA expression signatures: a case-control study

artículo científico publicado en 2013

Diagnosis of Bacterial Infection Using a 2-Transcript Host RNA Signature in Febrile Infants 60 Days or Younger

artículo científico publicado en 2017

Diagnosis of Kawasaki Disease Using a Minimal Whole-Blood Gene Expression Signature

article

Diagnosis of childhood tuberculosis and host RNA expression in Africa

artículo científico publicado en 2014

Disease association tests by inferring ancestral haplotypes using a hidden markov model

artículo científico publicado en 2008

Enhanced protein domain discovery by using language modeling techniques from speech recognition.

artículo científico publicado en 2003

Enhanced protein domain discovery using taxonomy

artículo científico publicado en 2004

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

artículo científico publicado en 2011

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

artículo científico publicado en 2010

Estimating parasite load dynamics to reveal novel resistance mechanisms to human malaria

article

Evaluating the genome and resistome of extensively drug-resistant Klebsiella pneumoniae using native DNA and RNA Nanopore sequencing

scientific article published on 01 February 2020

GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI

artículo científico publicado en 2019

Gene-targeted analysis of copy number variants identifies 3 novel associations with coronary heart disease traits.

artículo científico publicado en 2012

Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease

artículo científico publicado en 2009

Genetic Variation in the SLC8A1 Calcium Signaling Pathway Is Associated With Susceptibility to Kawasaki Disease and Coronary Artery Abnormalities

artículo científico publicado en 2016

Genetic evidence of assortative mating in humans

article

Genetic variability in the regulation of gene expression in ten regions of the human brain

artículo científico publicado en 2014

Genome sequences of two diploid wild relatives of cultivated sweetpotato reveal targets for genetic improvement

artículo científico publicado en 2018

Genome-wide association analysis of metabolic traits in a birth cohort from a founder population

artículo científico publicado en 2009

Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption

scientific journal article

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution

artículo científico publicado en 2009

Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.

artículo científico publicado en 2012

Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations

artículo científico publicado en 2009

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

artículo científico publicado en 2011

Genotype-free demultiplexing of pooled single-cell RNA-seq

artículo científico publicado en 2019

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

Haplotype and isoform specific expression estimation using multi-mapping RNA-seq reads.

artículo científico publicado en 2011

Highly interconnected genes in disease-specific networks are enriched for disease-associated polymorphisms

artículo científico publicado en 2012

Hundreds of variants clustered in genomic loci and biological pathways affect human height

artículo científico publicado en 2010

Identification of regulatory variants associated with genetic susceptibility to meningococcal disease

artículo científico publicado en 2019

Improved techniques for the identification of pseudogenes

artículo científico publicado en 2004

Inference of haplotypic phase and missing genotypes in polyploid organisms and variable copy number genomic regions

artículo científico publicado en 2008

Inferring combined CNV/SNP haplotypes from genotype data

artículo científico publicado en 2010

Insights into population structure of East African sweetpotato cultivars from hybrid assembly of chloroplast genomes

artículo científico publicado en 2018

Investigation of the HIN200 locus in UK SLE families identifies novel copy number variants.

artículo científico publicado en 2011

Long-Read RNA Sequencing Identifies Polyadenylation Elongation and Differential Transcript Usage of Host Transcripts During SARS-CoV-2 <i>In Vitro</i> Infection

artículo científico publicado en 2022

MERITS: a web-based integrated <i>Mycobacterial</i> PE/PPE protein database

artículo científico publicado en 2024

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

artículo científico publicado en 2010

Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization

artículo científico publicado en 2013

Metabolic profiling of polycystic ovary syndrome reveals interactions with abdominal obesity

artículo científico publicado en 2017

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

artículo científico publicado en 2011

Modelling pathogen load dynamics to elucidate mechanistic determinants of host-Plasmodium falciparum interactions

artículo científico publicado en 2019

Multi-clonal evolution of multi-drug-resistant/extensively drug-resistant Mycobacterium tuberculosis in a high-prevalence setting of Papua New Guinea for over three decades

artículo científico publicado en 2018

Multifactorial chromosomal variants regulate polymyxin resistance in extensively drug-resistant Klebsiella pneumoniae

artículo científico publicado en 2018

Mycobacterium tuberculosis Exploits a Molecular Off Switch of the Immune System for Intracellular Survival

artículo científico publicado en 2018

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

Nanoq: ultra-fast quality control for nanopore reads

artículo científico publicado en 2022

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

artículo científico publicado en 2010

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

artículo científico publicado en 2012

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

Octapeptin C4 and polymyxin resistance occur via distinct pathways in an epidemic XDR Klebsiella pneumoniae ST258 isolate

scientific article published on 01 March 2019

Ongoing human chromosome end extension revealed by analysis of BioNano and nanopore data

artículo científico publicado en 2018

Pathway analysis of GWAS provides new insights into genetic susceptibility to 3 inflammatory diseases

artículo científico publicado en 2009

Pathway-driven gene stability selection of two rheumatoid arthritis GWAS identifies and validates new susceptibility genes in receptor mediated signalling pathways

scientific journal article

Phase I Trial of Inducible Caspase 9 T Cells in Adult Stem Cell Transplant Demonstrates Massive Clonotypic Proliferative Potential and Long-term Persistence of Transgenic T Cells

scientific article published on 14 February 2019

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

artículo científico publicado en 2016

Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences

artículo científico publicado en 2016

Rapid diagnosis of Capnocytophaga canimorsus septic shock in an immunocompetent individual using real-time Nanopore sequencing: a case report

scientific article published on 24 July 2019

Real-time demultiplexing Nanopore barcoded sequencing data with npBarcode

artículo científico publicado en 2017

Real-time resolution of short-read assembly graph using ONT long reads

artículo científico publicado en 2021

Realtime analysis and visualization of MinION sequencing data with npReader.

artículo científico publicado en 2015

Retooling phage display with electrohydrodynamic nanomixing and nanopore sequencing

scientific article published on 12 November 2019

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

artículo científico publicado en 2017

Simulating the Dynamics of Targeted Capture Sequencing with CapSim

artículo científico publicado en 2017

Six new loci associated with body mass index highlight a neuronal influence on body weight regulation

artículo científico publicado en 2009

Small deletion variants have stable breakpoints commonly associated with alu elements.

artículo científico publicado en 2008

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

scholarly article published 15 May 2015

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

artículo científico publicado en 2016

Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly

artículo científico publicado en 2011

TTC12-ANKK1-DRD2 and CHRNA5-CHRNA3-CHRNB4 influence different pathways leading to smoking behavior from adolescence to mid-adulthood

artículo científico publicado en 2010

The Pfam protein families database

artículo científico publicado en 2004

The effect of genomic inversions on estimation of population genetic parameters from SNP data

artículo científico publicado en 2012

Transcriptional and epi-transcriptional dynamics of SARS-CoV-2 during cellular infection

artículo científico publicado en 2021

Transcriptomic Studies of Malaria: a Paradigm for Investigation of Systemic Host-Pathogen Interactions

scholarly article by Hyun Jae Lee et al published 1 June 2018 in Microbiology and Molecular Biology Reviews

Transforming growth factor-beta signaling pathway in patients with Kawasaki disease

artículo científico publicado en 2010

TreeFam: a curated database of phylogenetic trees of animal gene families

artículo científico publicado en 2006

Triclosan at environmentally relevant concentrations promotes horizontal transfer of multidrug resistance genes within and across bacterial genera

article

Variants in ADCY5 and near CCNL1 are associated with fetal growth and birth weight

artículo científico publicado en 2010

Variants in MTNR1B influence fasting glucose levels

artículo científico publicado en 2008

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

artículo científico publicado en 2022

YHap: a population model for probabilistic assignment of Y haplogroups from re-sequencing data.

artículo científico publicado en 2013

cnvCapSeq: detecting copy number variation in long-range targeted resequencing data.

artículo científico publicado en 2014

cnvHap: an integrative population and haplotype-based multiplatform model of SNPs and CNVs

artículo científico publicado en 2010

cnvHiTSeq: integrative models for high-resolution copy number variation detection and genotyping using population sequencing data.

artículo científico publicado en 2012

cnvOffSeq: detecting intergenic copy number variation using off-target exome sequencing data

artículo científico publicado en 2014

famCNV: copy number variant association for quantitative traits in families.

artículo científico publicado en 2011

invertFREGENE: software for simulating inversions in population genetic data.

artículo científico publicado en 2010

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

npInv: accurate detection and genotyping of inversions using long read sub-alignment

artículo científico publicado en 2018

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

artículo científico publicado en 2016

Lista de obras de Lachlan Coin

A census of human cancer genes

A complete high-quality MinION nanopore assembly of an extensively drug-resistant Mycobacterium tuberculosis Beijing lineage strain identifies novel variation in repetitive PE/PPE gene regions.

A genome-wide association search for type 2 diabetes genes in African Americans

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.

A new scoring system derived from base excess and platelet count at presentation predicts mortality in paediatric meningococcal sepsis

A population model for genotyping indels from next-generation sequence data.

An exome sequencing pipeline for identifying and genotyping common CNVs associated with disease with application to psoriasis

Assembly of whole-chromosome pseudomolecules for polyploid plant genomes using outbred mapping populations

Bioinformatics: living on the edge ⬇️

Childhood tuberculosis is associated with decreased abundance of T cell gene transcripts and impaired T cell function.

Chiron: Translating nanopore raw signal directly into nucleotide sequence using deep learning

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

Correction: Genome-Wide Association Scan Meta-Analysis Identifies Three Loci Influencing Adiposity and Fat Distribution.

Correction: Genome-Wide Association Studies of Asthma in Population-Based Cohorts Confirm Known and Suggested Loci and Identify an Additional Association near HLA

Cross-Border Movement of Highly Drug-Resistant Mycobacterium tuberculosis from Papua New Guinea to Australia through Torres Strait Protected Zone, 2010-2015

Demographic and motor features associated with the occurrence of neuropsychiatric and sleep complications of Parkinson's disease

Detection of tuberculosis in HIV-infected and -uninfected African adults using whole blood RNA expression signatures: a case-control study

Diagnosis of Bacterial Infection Using a 2-Transcript Host RNA Signature in Febrile Infants 60 Days or Younger

Diagnosis of Kawasaki Disease Using a Minimal Whole-Blood Gene Expression Signature

Diagnosis of childhood tuberculosis and host RNA expression in Africa

Disease association tests by inferring ancestral haplotypes using a hidden markov model

Enhanced protein domain discovery by using language modeling techniques from speech recognition.

Enhanced protein domain discovery using taxonomy

Erratum: Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

Erratum: New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

Estimating parasite load dynamics to reveal novel resistance mechanisms to human malaria

Evaluating the genome and resistome of extensively drug-resistant Klebsiella pneumoniae using native DNA and RNA Nanopore sequencing

GWAS on longitudinal growth traits reveals different genetic factors influencing infant, child, and adult BMI

Gene-targeted analysis of copy number variants identifies 3 novel associations with coronary heart disease traits.

Genetic Loci associated with C-reactive protein levels and risk of coronary heart disease

Genetic Variation in the SLC8A1 Calcium Signaling Pathway Is Associated With Susceptibility to Kawasaki Disease and Coronary Artery Abnormalities

Genetic evidence of assortative mating in humans

Genetic variability in the regulation of gene expression in ten regions of the human brain

Genome sequences of two diploid wild relatives of cultivated sweetpotato reveal targets for genetic improvement

Genome-wide association analysis of metabolic traits in a birth cohort from a founder population

Genome-wide association and genetic functional studies identify autism susceptibility candidate 2 gene (AUTS2) in the regulation of alcohol consumption

Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution

Genome-wide association studies of asthma in population-based cohorts confirm known and suggested loci and identify an additional association near HLA.

Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations

Genome-wide association study identifies loci influencing concentrations of liver enzymes in plasma

Genotype-free demultiplexing of pooled single-cell RNA-seq

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

Haplotype and isoform specific expression estimation using multi-mapping RNA-seq reads.

Highly interconnected genes in disease-specific networks are enriched for disease-associated polymorphisms

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Identification of regulatory variants associated with genetic susceptibility to meningococcal disease

Improved techniques for the identification of pseudogenes

Inference of haplotypic phase and missing genotypes in polyploid organisms and variable copy number genomic regions

Inferring combined CNV/SNP haplotypes from genotype data

Insights into population structure of East African sweetpotato cultivars from hybrid assembly of chloroplast genomes

Investigation of the HIN200 locus in UK SLE families identifies novel copy number variants.

Long-Read RNA Sequencing Identifies Polyadenylation Elongation and Differential Transcript Usage of Host Transcripts During SARS-CoV-2 <i>In Vitro</i> Infection

MERITS: a web-based integrated <i>Mycobacterial</i> PE/PPE protein database

Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution

Meta-analysis of genome-wide association studies identifies ten loci influencing allergic sensitization

Metabolic profiling of polycystic ovary syndrome reveals interactions with abdominal obesity

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Modelling pathogen load dynamics to elucidate mechanistic determinants of host-Plasmodium falciparum interactions

Multi-clonal evolution of multi-drug-resistant/extensively drug-resistant Mycobacterium tuberculosis in a high-prevalence setting of Papua New Guinea for over three decades

Multifactorial chromosomal variants regulate polymyxin resistance in extensively drug-resistant Klebsiella pneumoniae

Mycobacterium tuberculosis Exploits a Molecular Off Switch of the Immune System for Intracellular Survival

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

Nanoq: ultra-fast quality control for nanopore reads

New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk

Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals

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

Octapeptin C4 and polymyxin resistance occur via distinct pathways in an epidemic XDR Klebsiella pneumoniae ST258 isolate

Ongoing human chromosome end extension revealed by analysis of BioNano and nanopore data

Pathway analysis of GWAS provides new insights into genetic susceptibility to 3 inflammatory diseases

Pathway-driven gene stability selection of two rheumatoid arthritis GWAS identifies and validates new susceptibility genes in receptor mediated signalling pathways

Phase I Trial of Inducible Caspase 9 T Cells in Adult Stem Cell Transplant Demonstrates Massive Clonotypic Proliferative Potential and Long-term Persistence of Transgenic T Cells

Point Mutations in Exon 1B of APC Reveal Gastric Adenocarcinoma and Proximal Polyposis of the Stomach as a Familial Adenomatous Polyposis Variant

Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences

Rapid diagnosis of Capnocytophaga canimorsus septic shock in an immunocompetent individual using real-time Nanopore sequencing: a case report

Real-time demultiplexing Nanopore barcoded sequencing data with npBarcode

Real-time resolution of short-read assembly graph using ONT long reads

Realtime analysis and visualization of MinION sequencing data with npReader.

Retooling phage display with electrohydrodynamic nanomixing and nanopore sequencing

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