Lista de obras - Andrew Collins - Dominio Público Uruguay

13q deletion anatomy and disease progression in patients with chronic lymphocytic leukemia.

artículo científico publicado en 2010

A SNP profiling panel for sample tracking in whole-exome sequencing studies.

scientific article published on 27 September 2013

A comparative location database (CompLDB): map integration within and between species

scientific article published on 01 May 2007

A comparison of methods to detect recombination hotspots

artículo científico publicado en 2008

A first-generation metric linkage disequilibrium map of bovine chromosome 6

artículo científico publicado en 2006

A genome wide meta-analysis study for identification of common variation associated with breast cancer prognosis

artículo científico publicado en 2014

A linkage tournament: affection status, parametric analysis, multivariate traits, and enhancements to variance components and relative pairs.

artículo científico publicado en 2002

A map of the human genome in linkage disequilibrium units.

artículo científico publicado en 2005

A metric linkage disequilibrium map of a human chromosome

artículo científico publicado en 2003

A multimetric approach to analysis of genome-wide association by single markers and composite likelihood

artículo científico publicado en 2008

A novel approach for identifying candidate imprinted genes through sequence analysis of imprinted and control genes

article

A sequence-based integrated map of chromosome 22.

artículo científico publicado en 2001

A tournament of linkage tests in complex inheritance.

artículo científico publicado en 2001

ATM mutation rather than BIRC3 deletion and/or mutation predicts reduced survival in 11q-deleted chronic lymphocytic leukemia: data from the UK LRF CLL4 trial.

artículo científico publicado en 2014

Allelic association and disease mapping.

artículo científico publicado en 2001

Allelic association in the FRAX region

artículo científico publicado en 2000

Allelic association with SNPs: metrics, populations, and the linkage disequilibrium map.

artículo científico publicado en 2001

Allelic association: linkage disequilibrium structure and gene mapping.

scientific article published on 08 October 2008

An efficient procedure for genotyping single nucleotide polymorphisms.

artículo científico publicado en 2001

Approaches to the identification of susceptibility genes.

scientific article published on May 2009

Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study

artículo científico publicado en 2008

CHROMSCAN: genome-wide association using a linkage disequilibrium map

scientific article published on 28 November 2007

Chromosome-level assembly of the water buffalo genome surpasses human and goat genomes in sequence contiguity

artículo científico publicado en 2019

Clinical significance of DNA methylation in chronic lymphocytic leukemia patients: results from 3 UK clinical trials

scientific article published on 01 August 2019

Clinical significance of TP53, BIRC3, ATM and MAPK-ERK genes in chronic lymphocytic leukaemia: data from the randomised UK LRF CLL4 trial

artículo científico publicado en 2020

Combination of Linkage Evidence in Complex Inheritance

article

Commercial chicken breeds exhibit highly divergent patterns of linkage disequilibrium.

artículo científico publicado en 2016

Complex segregation analysis of hypospadias.

artículo científico publicado en 2002

Complex segregation analysis of nasopharyngeal carcinoma in Guangdong, China: evidence for a multifactorial mode of inheritance (complex segregation analysis of NPC in China)

article

Composite likelihood-based meta-analysis of breast cancer association studies.

artículo científico publicado en 2011

CpG Islands in Human X-Inactivation

scientific article published on 01 May 2003

Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes

artículo científico publicado en 2016

Determination of a gene and environment risk model for age-related macular degeneration.

artículo científico publicado en 2010

Does haplotype diversity predict power for association mapping of disease susceptibility?

artículo científico publicado en 2004

Dominant genes for colorectal cancer are not rare

artículo científico publicado el 1 de mayo de 1992

Effects of single SNPs, haplotypes, and whole-genome LD maps on accuracy of association mapping

artículo científico publicado en 2007

Erratum to: a SNP profiling panel for sample tracking in whole-exome sequencing studies.

artículo científico publicado en 2015

Error filtration, interference, and the human linkage map ⬇️

artículo científico publicado el 1 de agosto de 1991

Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting.

artículo científico publicado en 2017

Exome Sequencing in Classic Hairy Cell Leukaemia Reveals Widespread Variation in Acquired Somatic Mutations between Individual Tumours Apart from the Signature BRAF V(600)E Lesion.

artículo científico publicado en 2016

Exome sequence read depth methods for identifying copy number changes

artículo científico publicado en 2014

Exome sequencing in tracking clonal evolution in multiple myeloma following therapy

artículo científico publicado en 2012

Exome-based linkage disequilibrium maps of individual genes: functional clustering and relationship to disease.

artículo científico publicado en 2012

Exploiting large scale computing to construct high resolution linkage disequilibrium maps of the human genome

scientific article published on 01 December 2006

Extended tracts of homozygosity in outbred human populations

artículo científico publicado en 2006

Extent of genome-wide linkage disequilibrium in Australian Holstein-Friesian cattle based on a high-density SNP panel

artículo científico publicado en 2008

Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3.

artículo científico publicado en 2006

Fine-scale linkage disequilibrium mapping of age-related macular degeneration in the complement factor H gene region

artículo científico publicado en 2007

Gene-dense autosomal chromosomes show evidence for increased selection

artículo científico publicado en 2019

Gene-specific metrics to facilitate identification of disease genes for molecular diagnosis in patient genomes: a systematic review

article

Genetic analysis of multicase families of visceral leishmaniasis in northeastern Brazil: no major role for class II or class III regions of HLA

article

Genetic epidemiology of glioma

artículo científico publicado en 2001

Genetic epidemiology of single-nucleotide polymorphisms.

artículo científico publicado en 1999

Genetic epidemiology of visceral leishmaniasis in northeastern Brazil

artículo científico publicado en 2001

Genetic variants within chromosome 4q28.3 are not reproducibly associated with Age-related Macular Degeneration (AMD)

artículo científico publicado en 2010

Genetics and Prognostication in Splenic Marginal Zone Lymphoma: Revelations from Deep Sequencing

artículo científico publicado en 2015

Genome scanning by composite likelihood

artículo científico publicado en 2006

Genome variation: a review of Web resources

artículo científico publicado en 2011

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

artículo científico publicado en 2009

Genome-wide association of breast cancer: composite likelihood with imputed genotypes

artículo científico publicado en 2010

Germline variation in ADAMTSL1 is associated with prognosis following breast cancer treatment in young women

artículo científico publicado en 2017

Haplotypic analysis of the MMP-9 gene in relation to coronary artery disease

artículo científico publicado en 2003

Heterogeneity in the extent of linkage disequilibrium among exonic, intronic, non-coding RNA and intergenic chromosome regions

scientific article published on 03 May 2019

Identification of inherited genetic variations influencing prognosis in early-onset breast cancer

scientific journal article

Immunogenetics of leishmanial and mycobacterial infections: the Belem Family Study ⬇️

artículo científico publicado el 29 de septiembre de 1997

Impact of population structure, effective bottleneck time, and allele frequency on linkage disequilibrium maps

artículo científico publicado en 2004

Independent effects of the -219 G>T and epsilon 2/ epsilon 3/ epsilon 4 polymorphisms in the apolipoprotein E gene on coronary artery disease: the Southampton Atherosclerosis Study

artículo científico publicado en 2003

Individual disease risk and multimetric analysis of Crohn disease.

artículo científico publicado en 2008

Influence of TNFalpha and LTalpha single nucleotide polymorphisms on susceptibility to and prognosis in cutaneous malignant melanoma in the British population

artículo científico publicado en 2002

Influence of vascular endothelial growth factor single nucleotide polymorphisms on tumour development in cutaneous malignant melanoma

artículo científico publicado en 2002

JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms

artículo científico publicado en 2009

LDMAP: the construction of high-resolution linkage disequilibrium maps of the human genome

artículo científico publicado en 2007

Linkage disequilibrium and association mapping: an introduction.

artículo científico publicado en 2007

Linkage disequilibrium in human populations

artículo científico publicado en 2003

Linkage disequilibrium maps for European and African populations constructed from whole genome sequence data

scientific article published on 17 October 2019

Linkage disequilibrium maps to guide contig ordering for genome assembly

artículo científico publicado en 2019

Longitudinal copy number, whole exome and targeted deep sequencing of 'good risk' IGHV-mutated CLL patients with progressive disease

artículo científico publicado en 2016

Machine learning approaches for the discovery of gene-gene interactions in disease data

artículo científico publicado en 2013

Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies

artículo científico publicado en 2006

Mapping Genes for Common Diseases: The Case for Genetic (LD) Maps

article

Mapping quantitative effects of oligogenes by allelic association

artículo científico publicado en 2002

Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors

article

Megalencephaly syndromes: exome pipeline strategies for detecting low-level mosaic mutations

artículo científico publicado en 2014

Mutations in phospholipase C epsilon 1 are not sufficient to cause diffuse mesangial sclerosis

scientific article published on 26 November 2008

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes

artículo científico publicado en 2012

Non-coding NOTCH1 mutations in chronic lymphocytic leukemia; their clinical impact in the UK CLL4 trial.

scientific article published on 24 October 2016

Non-disjunction of chromosome 13.

artículo científico publicado en 2007

PIRA PCR designer for restriction analysis of single nucleotide polymorphisms

artículo científico publicado en 2001

Polymorphisms in a disintegrin and metalloprotease 33 (ADAM33) predict impaired early-life lung function

artículo científico publicado en 2005

Positional cloning by linkage disequilibrium

artículo científico publicado en 2004

Quantifying the cumulative effect of low-penetrance genetic variants on breast cancer risk

artículo científico publicado en 2015

Quantitated transcript haplotypes (QTH) ofAGTR1, reduced abundance of mRNA haplotypes containing 1166C (rs5186:A>C), and relevance to metabolic syndrome traits

article

Recombination, interference and sequence: comparison of chromosomes 21 and 22

artículo científico publicado en 2002

Refined association mapping for a quantitative trait: weight in the H19-IGF2-INS-TH region

artículo científico publicado en 2006

Sequencing era methods for identifying signatures of selection in the genome

scientific article published on 01 November 2019

Single-cell exomes in an index case of amp1q21 multiple myeloma reveal more diverse mutanomes than the whole population

artículo científico publicado en 2018

Support Vector Machine classifier for estrogen receptor positive and negative early-onset breast cancer.

artículo científico publicado en 2013

Support for the involvement of complement factor I in age-related macular degeneration

artículo científico publicado en 2010

Telomere length predicts progression and overall survival in chronic lymphocytic leukemia: data from the UK LRF CLL4 trial.

artículo científico publicado en 2015

Tests and estimates of allelic association in complex inheritance

artículo científico publicado en 1998

The BRCA1 Ashkenazi founder mutations occur on common haplotypes and are not highly correlated with anonymous single nucleotide polymorphisms likely to be used in genome-wide case-control association studies

artículo científico publicado en 2007

The clinical significance of NOTCH1 and SF3B1 mutations in the UK LRF CLL4 trial.

artículo científico publicado en 2013

The distinguishing sequence characteristics of mouse imprinted genes

article

The genome-wide patterns of variation expose significant substructure in a founder population

artículo científico publicado en 2008

The genomic and functional characteristics of disease genes

article

The impact of SNP density on fine-scale patterns of linkage disequilibrium

artículo científico publicado en 2004

The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer

artículo científico publicado en 2008

The interleukin-1 cluster gene region is associated with multiple sclerosis in an Italian Caucasian population

article

The optimal measure of allelic association

artículo científico publicado en 2001

The optimal measure of linkage disequilibrium reduces error in association mapping of affection status

artículo científico publicado en 2004

The origin of trisomy 13

artículo científico publicado en 2007

Understanding the disease genome: gene essentiality and the interplay of selection, recombination and mutation.

artículo científico publicado en 2017

Variation in complement component C1 inhibitor in age-related macular degeneration

artículo científico publicado en 2011

Whole exome sequencing identifies novel recurrently mutated genes in patients with splenic marginal zone lymphoma

artículo científico publicado en 2013

Whole genome sequences are required to fully resolve the linkage disequilibrium structure of human populations

artículo científico publicado en 2015

zalpha: an R package for the identification of regions of the genome under selection

scientific article published on 05 December 2020

Lista de obras de Andrew Collins

13q deletion anatomy and disease progression in patients with chronic lymphocytic leukemia.

A SNP profiling panel for sample tracking in whole-exome sequencing studies.

A comparative location database (CompLDB): map integration within and between species

A comparison of methods to detect recombination hotspots

A first-generation metric linkage disequilibrium map of bovine chromosome 6

A genome wide meta-analysis study for identification of common variation associated with breast cancer prognosis

A linkage tournament: affection status, parametric analysis, multivariate traits, and enhancements to variance components and relative pairs.

A map of the human genome in linkage disequilibrium units.

A metric linkage disequilibrium map of a human chromosome

A multimetric approach to analysis of genome-wide association by single markers and composite likelihood

A novel approach for identifying candidate imprinted genes through sequence analysis of imprinted and control genes

A sequence-based integrated map of chromosome 22.

A tournament of linkage tests in complex inheritance.

ATM mutation rather than BIRC3 deletion and/or mutation predicts reduced survival in 11q-deleted chronic lymphocytic leukemia: data from the UK LRF CLL4 trial.

Allelic association and disease mapping.

Allelic association in the FRAX region

Allelic association with SNPs: metrics, populations, and the linkage disequilibrium map.

Allelic association: linkage disequilibrium structure and gene mapping.

An efficient procedure for genotyping single nucleotide polymorphisms.

Approaches to the identification of susceptibility genes.

Association between the SERPING1 gene and age-related macular degeneration: a two-stage case-control study

CHROMSCAN: genome-wide association using a linkage disequilibrium map

Chromosome-level assembly of the water buffalo genome surpasses human and goat genomes in sequence contiguity

Clinical significance of DNA methylation in chronic lymphocytic leukemia patients: results from 3 UK clinical trials

Clinical significance of TP53, BIRC3, ATM and MAPK-ERK genes in chronic lymphocytic leukaemia: data from the randomised UK LRF CLL4 trial

Combination of Linkage Evidence in Complex Inheritance

Commercial chicken breeds exhibit highly divergent patterns of linkage disequilibrium.

Complex segregation analysis of hypospadias.

Complex segregation analysis of nasopharyngeal carcinoma in Guangdong, China: evidence for a multifactorial mode of inheritance (complex segregation analysis of NPC in China)

Composite likelihood-based meta-analysis of breast cancer association studies.

CpG Islands in Human X-Inactivation

Deleterious coding variants in multi-case families with non-syndromic cleft lip and/or palate phenotypes

Determination of a gene and environment risk model for age-related macular degeneration.

Does haplotype diversity predict power for association mapping of disease susceptibility?

Dominant genes for colorectal cancer are not rare

Effects of single SNPs, haplotypes, and whole-genome LD maps on accuracy of association mapping

Erratum to: a SNP profiling panel for sample tracking in whole-exome sequencing studies.

Error filtration, interference, and the human linkage map ⬇️

Evaluating phenotype-driven approaches for genetic diagnoses from exomes in a clinical setting.

Exome Sequencing in Classic Hairy Cell Leukaemia Reveals Widespread Variation in Acquired Somatic Mutations between Individual Tumours Apart from the Signature BRAF V(600)E Lesion.

Exome sequence read depth methods for identifying copy number changes

Exome sequencing in tracking clonal evolution in multiple myeloma following therapy

Exome-based linkage disequilibrium maps of individual genes: functional clustering and relationship to disease.

Exploiting large scale computing to construct high resolution linkage disequilibrium maps of the human genome

Extended tracts of homozygosity in outbred human populations

Extent of genome-wide linkage disequilibrium in Australian Holstein-Friesian cattle based on a high-density SNP panel

Fine mapping of the X-linked recessive congenital idiopathic nystagmus locus at Xq24-q26.3.

Fine-scale linkage disequilibrium mapping of age-related macular degeneration in the complement factor H gene region

Gene-dense autosomal chromosomes show evidence for increased selection

Gene-specific metrics to facilitate identification of disease genes for molecular diagnosis in patient genomes: a systematic review

Genetic analysis of multicase families of visceral leishmaniasis in northeastern Brazil: no major role for class II or class III regions of HLA

Genetic epidemiology of glioma

Genetic epidemiology of single-nucleotide polymorphisms.

Genetic epidemiology of visceral leishmaniasis in northeastern Brazil

Genetic variants within chromosome 4q28.3 are not reproducibly associated with Age-related Macular Degeneration (AMD)

Genetics and Prognostication in Splenic Marginal Zone Lymphoma: Revelations from Deep Sequencing

Genome scanning by composite likelihood

Genome variation: a review of Web resources

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

Genome-wide association of breast cancer: composite likelihood with imputed genotypes

Germline variation in ADAMTSL1 is associated with prognosis following breast cancer treatment in young women

Haplotypic analysis of the MMP-9 gene in relation to coronary artery disease

Heterogeneity in the extent of linkage disequilibrium among exonic, intronic, non-coding RNA and intergenic chromosome regions

Identification of inherited genetic variations influencing prognosis in early-onset breast cancer

Immunogenetics of leishmanial and mycobacterial infections: the Belem Family Study ⬇️

Impact of population structure, effective bottleneck time, and allele frequency on linkage disequilibrium maps

Independent effects of the -219 G>T and epsilon 2/ epsilon 3/ epsilon 4 polymorphisms in the apolipoprotein E gene on coronary artery disease: the Southampton Atherosclerosis Study

Individual disease risk and multimetric analysis of Crohn disease.

Influence of TNFalpha and LTalpha single nucleotide polymorphisms on susceptibility to and prognosis in cutaneous malignant melanoma in the British population

Influence of vascular endothelial growth factor single nucleotide polymorphisms on tumour development in cutaneous malignant melanoma

JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms

LDMAP: the construction of high-resolution linkage disequilibrium maps of the human genome

Linkage disequilibrium and association mapping: an introduction.

Linkage disequilibrium in human populations

Linkage disequilibrium maps for European and African populations constructed from whole genome sequence data

Linkage disequilibrium maps to guide contig ordering for genome assembly

Longitudinal copy number, whole exome and targeted deep sequencing of 'good risk' IGHV-mutated CLL patients with progressive disease

Machine learning approaches for the discovery of gene-gene interactions in disease data

Magnitude and distribution of linkage disequilibrium in population isolates and implications for genome-wide association studies