[PDF][PDF] A powerful approach to estimating annotation-stratified genetic covariance via GWAS summary statistics

Q Lu, B Li, D Ou, M Erlendsdottir, RL Powles… - The American Journal of …, 2017 - cell.com
Despite the success of large-scale genome-wide association studies (GWASs) on complex
traits, our understanding of their genetic architecture is far from complete. Jointly modeling …

[PDF][PDF] CD36-mediated metabolic rewiring of breast cancer cells promotes resistance to HER2-targeted therapies

…, W Wells, A Gaur, RB Robey, JY Guo, RL Powles… - Cell reports, 2019 - cell.com
Although it is established that fatty acid (FA) synthesis supports anabolic growth in cancer,
the role of exogenous FA uptake remains elusive. Here we show that, during acquisition of …

[HTML][HTML] Leveraging functional annotations in genetic risk prediction for human complex diseases

Y Hu, Q Lu, R Powles, X Yao, C Yang… - PLoS computational …, 2017 - journals.plos.org
Genetic risk prediction is an important goal in human genetics research and precision
medicine. Accurate prediction models will have great impacts on both disease prevention and …

[HTML][HTML] Integrative tissue-specific functional annotations in the human genome provide novel insights on many complex traits and improve signal prioritization in …

Q Lu, RL Powles, Q Wang, BJ He, H Zhao - PLoS genetics, 2016 - journals.plos.org
Extensive efforts have been made to understand genomic function through both experimental
and computational approaches, yet proper annotation still remains challenging, especially …

[HTML][HTML] Systematic tissue-specific functional annotation of the human genome highlights immune-related DNA elements for late-onset Alzheimer's disease

Q Lu, RL Powles, S Abdallah, D Ou, Q Wang, Y Hu… - PLoS …, 2017 - journals.plos.org
Continuing efforts from large international consortia have made genome-wide epigenomic
and transcriptomic annotation data publicly available for a variety of cell and tissue types. …

DGKα/ζ inhibitors combine with PD-1 checkpoint therapy to promote T cell–mediated antitumor immunity

…, H Qiu, Y Shan, D Banas, R Powles… - Science translational …, 2023 - science.org
Programmed cell death protein 1 (PD-1) immune checkpoint blockade therapy has
revolutionized cancer treatment. Although PD-1 blockade is effective in a subset of patients with …

[HTML][HTML] Scalable and cost-effective NGS genotyping in the cloud

…, JY Jung, E Rizzo, JB Hawkins, R Powles… - BMC medical …, 2015 - Springer
Background While next-generation sequencing (NGS) costs have plummeted in recent years,
cost and complexity of computation remain substantial barriers to the use of NGS in routine …

Association of T-cell receptor repertoire use with response to combined trastuzumab-lapatinib treatment of HER2-positive breast cancer: secondary analysis of the …

RL Powles, D Redmond, C Sotiriou, S Loi… - JAMA …, 2018 - jamanetwork.com
Importance Dual anti-HER2 blockade increased the rate of pathologic complete response (pCR)
in the Neoadjuvant Lapatinib and/or Trastuzumab Treatment Optimisation (NeoALTTO) …

Analysis of pre-and posttreatment tissues from the SWOG S0800 trial reveals an effect of neoadjuvant chemotherapy on the breast cancer genome

RL Powles, VB Wali, X Li, WE Barlow, Z Nahleh… - Clinical Cancer …, 2020 - AACR
Purpose: We performed whole-exome sequencing (WES) of pre- and posttreatment cancer
tissues to assess the somatic mutation landscape of tumors before and after neoadjuvant …

[HTML][HTML] Genomic and immune profiling of a patient with triple-negative breast cancer that progressed during neoadjuvant chemotherapy plus PD-L1 blockade

D Casadevall, X Li, RL Powles, VB Wali… - JCO Precision …, 2019 - ncbi.nlm.nih.gov
Preliminary results from neoadjuvant trials combining immune checkpoint blockade (ICB)
with standardof-care chemotherapy suggest high pathologic complete response rates that …