• Publications
  • Influence
Epigenome-wide association data implicate DNA methylation as an intermediary of genetic risk in Rheumatoid Arthritis
DNA methylation is a potential mediator of genetic risk for rheumatoid arthritis and is corrected for cellular heterogeneity by estimating and adjusting for cell-type proportions in blood-derived DNA samples and used mediation analysis to filter out associations likely to be a consequence of disease. Expand
Assembly of a pan-genome from deep sequencing of 910 humans of African descent
A deeply sequenced dataset of 910 individuals, all of African descent, is used to construct a set of DNA sequences that is present in these individuals but missing from the reference human genome, demonstrating that the African pan-genome contains ~10% more DNA than the current human reference genome. Expand
Identification of functional variants for cleft lip with or without cleft palate in or near PAX7, FGFR2, and NOG by targeted sequencing of GWAS loci.
This targeted sequencing study provides strong functional evidence implicating several specific variants as primary contributory risk alleles for nonsyndromic clefting in humans. Expand
Reproducible RNA-seq analysis using recount2
This work presents a new generation of probabilistic models that combine RNAseq, a very simple and scalable approach to genome annotation, with real-time information about the “wear and tear” of the genome. Expand
Genome-wide screen for asthma in Puerto Ricans: evidence for association with 5q23 region
There is strong evidence that the previously linked 5q23 region is associated with asthma in Puerto Ricans, and the detection of causative variants in this region will require fine mapping and functional validation. Expand
Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes
A Correction to this paper has been published: https://doi.org/10.1038/s41586-021-03280-1.
Increased prevalence of the Taq I A1 allele of the dopamine receptor gene (DRD2) in obesity with comorbid substance use disorder: a preliminary report.
The preliminary data suggest that the presence of the DRD2 A1 allele confirms increased risk not only for obesity, but also for other related addictive behaviours (previously referred to as the Reward Deficiency Syndrome) and that a BMI over 25 by itself (without characterization of macroselection or comorbid substance use disorders) is not a sufficient criterion for association with the DRd2 A 1 allele. Expand
Confirming genes influencing risk to cleft lip with/without cleft palate in a case–parent trio study
This study confirms that many different genes influence risk to CL/P, and Meta-analysis between the original GWAS trios showed PAX7, COL8A1/FILIP1L and NTN1 achieved genome-wide significance. Expand
Overcoming bias and systematic errors in next generation sequencing data
Current knowledge about biases that should be taken into account when analyzing high-throughput sequencing data are reviewed, their impact on analysis results is discussed, and proposed solutions are proposed. Expand
Association of DNA Methylation Differences With Schizophrenia in an Epigenome-Wide Association Study.
This analysis identified 172 replicated new associations with SZ after careful correction for cell type heterogeneity and other potential confounders and found some replicated differentially methylated positions are located in a top-ranked SZ region from genome-wide association study analyses. Expand