Delivering precision oncology to patients with cancer

J Mateo, L Steuten, P Aftimos, F André, M Davies… - Nature medicine, 2022 - nature.com
With the increasing use of genomic profiling for diagnosis and therapy guidance in many
tumor types, precision oncology is rapidly reshaping cancer care. However, the current …

[PDF][PDF] 15 years of GWAS discovery: realizing the promise

A Abdellaoui, L Yengo, KJH Verweij… - The American Journal of …, 2023 - cell.com
It has been 15 years since the advent of the genome-wide association study (GWAS) era.
Here, we review how this experimental design has realized its promise by facilitating an …

Polygenic scoring accuracy varies across the genetic ancestry continuum

Y Ding, K Hou, Z Xu, A Pimplaskar, E Petter, K Boulier… - Nature, 2023 - nature.com
Polygenic scores (PGSs) have limited portability across different groupings of individuals (for
example, by genetic ancestries and/or social determinants of health), preventing their …

Principles and methods for transferring polygenic risk scores across global populations

L Kachuri, N Chatterjee, J Hirbo, DJ Schaid… - Nature Reviews …, 2024 - nature.com
Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait
or disease and may become a valuable tool for advancing precision medicine. However …

Polygenic scores in biomedical research

IJ Kullo, CM Lewis, M Inouye, AR Martin… - Nature Reviews …, 2022 - nature.com
Public health strategies aimed at disease prevention or early detection and intervention
have the potential to advance human health worldwide. However, their success depends on …

A new method for multiancestry polygenic prediction improves performance across diverse populations

H Zhang, J Zhan, J Jin, J Zhang, W Lu, R Zhao… - Nature …, 2023 - nature.com
Polygenic risk scores (PRSs) increasingly predict complex traits; however, suboptimal
performance in non-European populations raise concerns about clinical applications and …

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 …

Inadvertent human genomic bycatch and intentional capture raise beneficial applications and ethical concerns with environmental DNA

L Whitmore, M McCauley, JA Farrell… - Nature Ecology & …, 2023 - nature.com
The field of environmental DNA (eDNA) is advancing rapidly, yet human eDNA applications
remain underutilized and underconsidered. Broader adoption of eDNA analysis will produce …

New insights from the last decade of research in psychiatric genetics: discoveries, challenges and clinical implications

OA Andreassen, GFL Hindley, O Frei… - World …, 2023 - Wiley Online Library
Psychiatric genetics has made substantial progress in the last decade, providing new
insights into the genetic etiology of psychiatric disorders, and paving the way for precision …

Increasing diversity in genomics requires investment in equitable partnerships and capacity building

AR Martin, RE Stroud, T Abebe, D Akena… - Nature …, 2022 - nature.com
Calls for diversity in genomics have motivated new global research collaborations across
institutions with highly imbalanced resources. We describe practical lessons we have …