List of works - Lachlan Coin

The Pfam protein families database

scientific article (publication date: 2004)

A census of human cancer genes

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

Variants in MTNR1B influence fasting glucose levels

scientific article

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

scientific article

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

scientific article

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

scientific article published in June 2009

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 16 October 2011

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

scientific article

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

scientific journal article

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

scientific article

Diagnosis of childhood tuberculosis and host RNA expression in Africa

scientific article published in May 2014

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

scientific article (publication date: October 2013)

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 4 January 2012

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific article

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

scientific journal article

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

scientific article published on 15 June 2012

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

scientific article published on 26 July 2016

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

scientific article

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

scientific article published on 20 February 2017

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

scientific article published on 30 May 2010

Genetic evidence of assortative mating in humans

scholarly article

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

scientific article

Inferring combined CNV/SNP haplotypes from genotype data

scientific article

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

scientific article published on 10 April 2018

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

scientific article published in Nature Communications

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

scientific article

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

article

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

scientific article published on 11 April 2013

Improved techniques for the identification of pseudogenes

scientific article published in 2004

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

scientific article published on 23 February 2008

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

scientific article

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

scientific article

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

scientific article

List of works by Lachlan Coin

The Pfam protein families database

A census of human cancer genes

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

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

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

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

Variants in MTNR1B influence fasting glucose levels

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

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

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

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

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

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

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

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

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

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

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

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

Diagnosis of childhood tuberculosis and host RNA expression in Africa

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Genetic evidence of assortative mating in humans

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

Inferring combined CNV/SNP haplotypes from genotype data

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

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

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

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

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

Improved techniques for the identification of pseudogenes

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

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

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

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