Sarah Finer

This study identifies 26 risk loci for fibromyalgia through a genome-wide association analysis of 2.5 million individuals, revealing genetic links to neural functions and chronic pain disorders.

This study identifies genetic variants associated with healthcare costs across multiple systems, finding polygenic influences and large effects from specific loss-of-function variants.

This study integrates genetic variation with plasma protein measurements in South Asians to identify pQTLs and build a proteogenomic disease network for understudied populations.

The paper integrates positive selection signatures with genetic data to identify metabolically relevant loci in South Asians, finding the MAPT locus associated with insulin resistance.

The paper conducts a multi-ancestry, trans-generational GWAS meta-analysis of gestational diabetes and glycemic traits, identifying novel loci and highlighting limited pregnancy-specific genetic effects.

The paper establishes a global consortium to discover rare genetic associations by integrating data from multiple biobanks, identifying 514 gene-trait associations, many detectable only through cross-ancestry meta-analysis.

This paper develops and validates multi-ancestry polygenic risk scores for type 2 diabetes prediction and complications across diverse populations.

The paper performs whole exome sequencing on 44,028 British South Asians to identify gene-phenotype associations and knockout genes, finding novel links and implications for drug development.

This study assesses the association between APOE genetic variants and dementia risk in British South Asians using healthcare records and genotyping data.

This pilot study identifies British South Asians at high risk of cholestatic liver disease through genetic and phenotypic recall, finding 66.7% of participants had undetected liver disease.

This paper improves type 2 diabetes polygenic risk scores by including rare and population-specific variants, showing better risk prediction in diverse populations.

This study examines the proteomic and clinical impact of human knockouts in British South Asians, identifying significant protein under- and over-expression and developing a machine learning model to predict variant benignity.

The paper identifies ancestry-specific T2D risk variants in South Asian populations through exome-wide association study and functional validation.

The paper uses nanoparticle enriched mass spectrometry proteomics in British South Asians to identify novel variant-protein-disease mechanisms through integrative analysis of exome sequencing and proteomic data.

This study conducts a genome-wide association study (GWAS) of ME/CFS, identifying eight genetic loci associated with the disease, suggesting involvement of immune and neurological processes.

This study identifies a distinct senescent-like CD8 TEMRA cell population in older individuals with type 2 diabetes, linked to metabolic inflammation and impaired immune function.

This paper examines how polygenic risk scores for adiposity relate to early type 2 diabetes onset in South Asians and Europeans, finding that BMI mediates this relationship more fully in Europeans than in South Asians.

The paper identifies 185 genome-wide significant loci associated with common diseases in a cohort of British Pakistanis and Bangladeshis with high autozygosity, focusing on recessive genetic effects.

This study estimates that ~6% of insulin-treated diabetic individuals with ambiguous features in British Pakistanis and Bangladeshis have T1D, highlighting the need for autoantibody and C-peptide testing.

The paper investigates the association between autozygosity and common diseases in multiple cohorts, finding significant links to twelve diseases and estimating autozygosity's contribution to type 2 diabetes cases.

This study identifies XBP1 expression in pancreatic islets as a genetic factor associated with poor glycaemic control and increased T2DM risk in South and East Asians, particularly in young non-obese onset diabetes.

The paper identifies PIK3R3 as a candidate regulator of platelet count in Bangladeshi ancestry individuals through GWAS and functional analysis.

This study evaluates polygenic risk score methods across diverse biobanks and ancestries, finding that European reference panels often yield better performance, while PRS-CS outperforms P+T for high-heritability traits.

This paper shows that meta-analysis fine-mapping is often miscalibrated due to cohort heterogeneity and introduces a QC method to identify suspicious loci.

Meta-analysis of harmonized GWAS from up to 18 biobanks (six ancestry groups) across 14 endpoints replicated 320 known loci and identified 188 apparently novel loci.

This study assesses the transferability of genetic loci and polygenic scores for cardiometabolic traits from European-ancestry samples to British Pakistanis and Bangladeshis, finding high transferability for most loci but variable performance for polygenic scores.

This paper conducts a multi-ancestry GWAS of major depression, identifying 190 loci and 354 genes, with findings showing increased fine-mapping power and bidirectional BMI relationship in European ancestry samples.

This paper constructs a type 2 diabetes polygenic risk score for British Pakistanis and Bangladeshis, integrates it with a clinical tool to improve risk prediction, and identifies genetic differences between disease subgroups.

This study examines genetic scores for birth weight in South Asians, finding associations with birth size, childhood body size, and adult cardiometabolic markers.