Fine-mapping type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps
…, OH Franco, TM Frayling, V Giedraitis, S Hackinger… - Nature …, 2018 - nature.com
We expanded GWAS discovery for type 2 diabetes (T2D) by combining data from 898,130
European-descent individuals (9% cases), after imputation to high-density reference panels. …
European-descent individuals (9% cases), after imputation to high-density reference panels. …
Multi-ancestry genetic study of type 2 diabetes highlights the power of diverse populations for discovery and translation
…, D Gorkin, M Gross, Y Guo, S Hackinger… - Nature …, 2022 - nature.com
We assembled an ancestrally diverse collection of genome-wide association studies (GWAS)
of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls (48.9% non…
of type 2 diabetes (T2D) in 180,834 affected individuals and 1,159,055 controls (48.9% non…
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes
…, V Giedraitis, ML Grove, HG de Haan, S Hackinger… - Nature …, 2018 - nature.com
We aggregated coding variant data for 81,412 type 2 diabetes cases and 370,832 controls
of diverse ancestry, identifying 40 coding variant association signals (P < 2.2 × 10 −7 ); of …
of diverse ancestry, identifying 40 coding variant association signals (P < 2.2 × 10 −7 ); of …
Genome-wide analyses using UK Biobank data provide insights into the genetic architecture of osteoarthritis
…, J Steinberg, FP Hartwig, L Southam, S Hackinger… - Nature …, 2018 - nature.com
Osteoarthritis is a common complex disease imposing a large public-health burden. Here,
we performed a genome-wide association study for osteoarthritis, using data across 16.5 …
we performed a genome-wide association study for osteoarthritis, using data across 16.5 …
[HTML][HTML] Liquid BIOpsy for MiNimal RESidual DiSease Detection in Head and Neck Squamous Cell Carcinoma (LIONESS)—A personalised circulating tumour DNA …
S Flach, K Howarth, S Hackinger, C Pipinikas… - British Journal of …, 2022 - nature.com
Background Head and neck squamous cell carcinoma (HNSCC) remain a substantial burden
to global health. Cell-free circulating tumour DNA (ctDNA) is an emerging biomarker but …
to global health. Cell-free circulating tumour DNA (ctDNA) is an emerging biomarker but …
Statistical methods to detect pleiotropy in human complex traits
S Hackinger, E Zeggini - Open biology, 2017 - royalsocietypublishing.org
In recent years pleiotropy, the phenomenon of one genetic locus influencing several traits,
has become a widely researched field in human genetics. With the increasing availability of …
has become a widely researched field in human genetics. With the increasing availability of …
High-or low-dose preoperative ipilimumab plus nivolumab in stage III urothelial cancer: the phase 1B NABUCCO trial
…, G Marsico, ML van Montfoort, S Hackinger… - Nature medicine, 2023 - nature.com
Cohort 1 of the phase 1B NABUCCO trial showed high pathological complete response (pCR)
rates with preoperative ipilimumab plus nivolumab in stage III urothelial cancer (UC). In …
rates with preoperative ipilimumab plus nivolumab in stage III urothelial cancer (UC). In …
[HTML][HTML] Evidence for genetic contribution to the increased risk of type 2 diabetes in schizophrenia
S Hackinger, B Prins, V Mamakou, E Zengini… - Translational …, 2018 - nature.com
The epidemiologic link between schizophrenia (SCZ) and type 2 diabetes (T2D) remains
poorly understood. Here, we investigate the presence and extent of a shared genetic …
poorly understood. Here, we investigate the presence and extent of a shared genetic …
Evaluation of shared genetic aetiology between osteoarthritis and bone mineral density identifies SMAD3 as a novel osteoarthritis risk locus
S Hackinger, K Trajanoska… - Human molecular …, 2017 - academic.oup.com
Osteoarthritis (OA) is a common complex disease with high public health burden and no
curative therapy. High bone mineral density (BMD) is associated with an increased risk of …
curative therapy. High bone mineral density (BMD) is associated with an increased risk of …
[HTML][HTML] Multi-ancestry genome-wide study in> 2.5 million individuals reveals heterogeneity in mechanistic pathways of type 2 diabetes and complications
…, P Gordon-Larsen, M Gross, LA Guare, S Hackinger… - medRxiv, 2023 - ncbi.nlm.nih.gov
Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse
pathophysiological processes. To characterise the genetic contribution to these processes across …
pathophysiological processes. To characterise the genetic contribution to these processes across …