Martin Pollard
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View article: Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa
Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa Open
Genomic studies in African populations provide unique opportunities to understand disease etiology, human diversity, and population history. In the largest study of its kind, comprising genome-wide data from 6,400 individuals and whole-gen…
View article: High-resolution African HLA resource uncovers<i>HLA-DRB1</i>expression effects underlying vaccine response
High-resolution African HLA resource uncovers<i>HLA-DRB1</i>expression effects underlying vaccine response Open
How human genetic variation contributes to vaccine immunogenicity and effectiveness is unclear, particularly in infants from Africa. We undertook genome-wide association analyses of eight vaccine antibody responses in 2,499 infants from th…
View article: High-resolution African HLA resource uncovers HLA-DRB1 expression effects underlying vaccine response: summary statistics
High-resolution African HLA resource uncovers HLA-DRB1 expression effects underlying vaccine response: summary statistics Open
How human genetic variation contributes to vaccine immunogenicity and effectiveness is unclear, particularly in infants from Africa. We undertook genome-wide association analyses of eight vaccine antibody responses in 2,499 infants from th…
View article: High-resolution African HLA resource uncovers HLA-DRB1 expression effects underlying vaccine response: summary statistics
High-resolution African HLA resource uncovers HLA-DRB1 expression effects underlying vaccine response: summary statistics Open
How human genetic variation contributes to vaccine immunogenicity and effectiveness is unclear, particularly in infants from Africa. We undertook genome-wide association analyses of eight vaccine antibody responses in 2,499 infants from th…
View article: Twelve years of SAMtools and BCFtools.
Twelve years of SAMtools and BCFtools. Open
BACKGROUND: SAMtools and BCFtools are widely used programs for processing and analysing high-throughput sequencing data. They include tools for file format conversion and manipulation, sorting, querying, statistics, variant calling, and ef…
View article: Twelve years of SAMtools and BCFtools
Twelve years of SAMtools and BCFtools Open
Background SAMtools and BCFtools are widely used programs for processing and analysing high-throughput sequencing data. They include tools for file format conversion and manipulation, sorting, querying, statistics, variant calling, and eff…
View article: Very low-depth whole-genome sequencing in complex trait association studies
Very low-depth whole-genome sequencing in complex trait association studies Open
Motivation Very low-depth sequencing has been proposed as a cost-effective approach to capture low-frequency and rare variation in complex trait association studies. However, a full characterization of the genotype quality and association …
View article: Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits
Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits Open
The role of rare variants in complex traits remains uncharted. Here, we conduct deep whole genome sequencing of 1457 individuals from an isolated population, and test for rare variant burdens across six cardiometabolic traits. We identify …
View article: Long reads: their purpose and place
Long reads: their purpose and place Open
In recent years long-read technologies have moved from being a niche and specialist field to a point of relative maturity likely to feature frequently in the genomic landscape. Analogous to next generation sequencing, the cost of sequencin…
View article: Embracing Discomfort: Brexit, Groupthink and the Challenge of True Critical Thinking
Embracing Discomfort: Brexit, Groupthink and the Challenge of True Critical Thinking Open
This article argues that the left-liberal bias in the teaching profession can stifle genuine critical thinking amongst learners. Schools are increasingly committed to classroom debate about issues like Brexit, but should confront their own…
View article: Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits
Cohort-wide deep whole genome sequencing and the allelic architecture of complex traits Open
The role of rare variants in complex traits remains uncharted. Here, we conduct deep whole genome sequencing of 1,457 individuals from an isolated population, and test for rare variant burdens across six cardiometabolic traits. We identify…
View article: Very low depth whole genome sequencing in complex trait association studies
Very low depth whole genome sequencing in complex trait association studies Open
Motivation Very low depth sequencing has been proposed as a cost-effective approach to capture low-frequency and rare variation in complex trait association studies. However, a full characterisation of the genotype quality and association …
View article: Whole-genome association study of antibody response to Epstein-Barr virus in an African population: a pilot
Whole-genome association study of antibody response to Epstein-Barr virus in an African population: a pilot Open
Epstein Barr virus (EBV) infects 95% of the global population and is associated with up to 2% of cancers globally. Immunoglobulin G (IgG) antibody levels to EBV have been shown to be heritable and associated with developing malignancies. W…
View article: A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis
A protein-truncating R179X variant in RNF186 confers protection against ulcerative colitis Open
Protein-truncating variants protective against human disease provide in vivo validation of therapeutic targets. Here we used targeted sequencing to conduct a search for protein-truncating variants conferring protection against inflammatory…
View article: Exploring the genetic architecture of inflammatory bowel disease by whole genome sequencing identifies association at<i>ADCY7</i>
Exploring the genetic architecture of inflammatory bowel disease by whole genome sequencing identifies association at<i>ADCY7</i> Open
In order to further resolve the genetic architecture of the inflammatory bowel diseases, ulcerative colitis and Crohn’s disease, we sequenced the whole genomes of 4,280 patients at low coverage, and compared them to 3,652 previously sequen…