From target discovery to clinical drug development with human genetics

K Trajanoska, C Bhérer, D Taliun, S Zhou, JB Richards… - Nature, 2023 - nature.com
The substantial investments in human genetics and genomics made over the past three
decades were anticipated to result in many innovative therapies. Here we investigate the …

Lung cancer in patients who have never smoked—An emerging disease

J LoPiccolo, A Gusev, DC Christiani… - Nature Reviews Clinical …, 2024 - nature.com
Lung cancer is the most common cause of cancer-related deaths globally. Although smoking-
related lung cancers continue to account for the majority of diagnoses, smoking rates have …

Genome-wide association of polygenic risk extremes for Alzheimer's disease in the UK Biobank

C Gouveia, E Gibbons, N Dehghani, J Eapen… - Scientific Reports, 2022 - nature.com
In just over a decade, advances in genome-wide association studies (GWAS) have offered
an approach to stratify individuals based on genetic risk for disease. Using recent …

Combined effect of a polygenic risk score and rare genetic variants on prostate cancer risk

BF Darst, X Sheng, RA Eeles, Z Kote-Jarai, DV Conti… - European urology, 2021 - Elsevier
Although prostate cancer is known to have a strong genetic basis and is influenced by both
common and rare variants, the ability to investigate the combined effect of such genetic risk …

Polygenic risk score association with multiple sclerosis susceptibility and phenotype in Europeans

H Shams, X Shao, A Santaniello, G Kirkish, A Harroud… - Brain, 2023 - academic.oup.com
Polygenic inheritance plays a pivotal role in driving multiple sclerosis susceptibility, an
inflammatory demyelinating disease of the CNS. We developed polygenic risk scores (PRS) …

Map** the genetic architecture of cortical morphology through neuroimaging: progress and perspectives

D van der Meer, T Kaufmann - Translational Psychiatry, 2022 - nature.com
Cortical morphology is a key determinant of cognitive ability and mental health. Its
development is a highly intricate process spanning decades, involving the coordinated …

The genetics of non-monogenic IBD

D Jans, I Cleynen - Human Genetics, 2023 - Springer
Inflammatory bowel disease (IBD), with Crohn's disease and ulcerative colitis as main
subtypes, is a prototypical multifactorial disease with both genetic and environmental factors …

Identifying rare genetic determinants for improved polygenic risk prediction of bone mineral density and fracture risk

T Lu, V Forgetta, S Zhou, JB Richards… - Journal of Bone and …, 2023 - academic.oup.com
Osteoporosis and fractures severely impact the elderly population. Polygenic risk scores for
bone mineral density have demonstrated potential clinical utility. However, the value of rare …

Exome-wide screening identifies novel rare risk variants for major depression disorder

S Cheng, B Cheng, L Liu, X Yang, P Meng, Y Yao… - Molecular …, 2022 - nature.com
Despite thousands of common genetic loci of major depression disorders (MDD) have been
identified by GWAS to date, a large proportion of genetic variation predisposing to MDD …

Polygenic risk and rare variant gene clustering enhance cancer risk stratification for breast and prostate cancers

JH Kang, Y Lee, DJ Kim, JW Kim, MJ Cheon… - Communications …, 2024 - nature.com
Polygenic risk score (PRS) and rare monogenic variant screening are valuable tools for
predicting cancer risk and identifying individuals at high risk. Integrating both common and …