Results 71 to 80 of about 10,755 (158)

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, EarlyView.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

Phenome-Wide Association Study for Alcohol and Nicotine Risk Alleles in 26394 Women [PDF]

Neuropsychopharmacology, 2016
To identify novel traits associated with alleles known to predispose to alcohol and nicotine use, we conducted a phenome-wide association study (PheWAS) in a large multi-population cohort. We investigated 7688 African-Americans, 1133 Asian-Americans, 14 081 European-Americans, and 3492 Hispanic-Americans from the Women's Health Initiative, analyzing ...
Renato, Polimanti, Henry R, Kranzler, Joel, Gelernter   +2 more
openaire   +2 more sources

An early-onset specific polygenic risk score optimizes age-based risk estimate and stratification of prostate cancer: population-based cohort study

Journal of Translational Medicine
Background Early-onset prostate cancer (EOPC, ≤ 55 years) has a unique clinical entity harboring high genetic risk, but the majority of EOPC patients still substantial opportunity to be early-detected thus suffering an unfavorable prognosis.
Yifei Cheng, Lang Wu, Junyi Xin, Shuai Ben, Silu Chen, Huiqin Li, Lingyan Zhao, Meilin Wang, Gong Cheng, Mulong Du   +9 more
doaj   +1 more source

Advancing conservation breeding programs for marine invertebrates

Conservation Biology, EarlyView.
Abstract In the face of ecosystem change and biodiversity loss caused by climate change and other stressors, conservation breeding, or captive breeding, with the aim of reintroduction for wild population recovery, is an emerging tool for preventing species’ extinction and rehabilitating ecosystems.
Elora H. López‐Nandam, Bart Shepherd, Kylie Lev, Rebecca Albright   +3 more
wiley   +1 more source

Cell‐based crop phenotyping for future climates

New Phytologist, EarlyView.
Flow‐chart diagram illustrating the proposed pathway for improving the throughput of fluorescence imaging‐based phenotyping by using robotics and machine learning (ML) approaches. Summary Abiotic stress tolerance has been significantly weakened in modern crops during the domestication process.
Sergey Shabala, Ping Yun, Zhong‐Hua Chen, Meixue Zhou, Min Yu, Nadia Bazihizina   +5 more
wiley   +1 more source

A phenome-wide association study to discover pleiotropic effects of PCSK9, APOB, and LDLR [PDF]

npj Genomic Medicine, 2019
AbstractWe conducted an electronic health record (EHR)-based phenome-wide association study (PheWAS) to discover pleiotropic effects of variants in three lipoprotein metabolism genesPCSK9,APOB, andLDLR. Using high-density genotype data, we tested the associations of variants in the three genes with 1232 EHR-derived binary phecodes in 51,700 European ...
Maya S. Safarova, Benjamin A. Satterfield, Xiao Fan, Erin E. Austin, Zhan Ye, Lisa Bastarache, Neil Zheng, Marylyn D. Ritchie, Kenneth M. Borthwick, Marc S. Williams, Eric B. Larson, Aaron Scrol, Gail P. Jarvik, David R. Crosslin, Kathleen Leppig, Laura J. Rasmussen-Torvik, Sarah A. Pendergrass, Amy C. Sturm, Bahram Namjou, Amy Sanghavi Shah, Robert J. Carroll, Wendy K. Chung, Wei-Qi Wei, QiPing Feng, C. Michael Stein, Dan M. Roden, Teri A. Manolio, Daniel J. Schaid, Joshua C. Denny, Scott J. Hebbring, Mariza de Andrade, Iftikhar J. Kullo   +31 more
openaire   +2 more sources

PTGES2 and RNASET2 identified as novel potential biomarkers and therapeutic targets for basal cell carcinoma: insights from proteome-wide mendelian randomization, colocalization, and MR-PheWAS analyses

Frontiers in Pharmacology
IntroductionBasal cell carcinoma (BCC) is the most common skin cancer, lacking reliable biomarkers or therapeutic targets for effective treatment. Genome-wide association studies (GWAS) can aid in identifying drug targets, repurposing existing drugs ...
Qiu-Ju Han, Yi-Pan Zhu, Jing Sun, Xin-Yu Ding, Xiuyu Wang, Qiang-Zhe Zhang   +5 more
doaj   +1 more source

Root trait dynamics of historical canola varieties under low and high nitrogen supply

The Plant Phenome Journal, Volume 9, Issue 1, December 2026.
Abstract Nitrogen fertilizer is a major input cost in crop production, making it crucial to enhance nitrogen use efficiency (NUE) to reduce fertilizer dependence without compromising yields. Root system architecture (RSA) is a key determinant of nutrient acquisition, particularly under nutrient‐limited conditions.
Shankar Pahari, Raju Soolanayakanahally
wiley   +1 more source

Affordable Phenomics special topic—Foreword for The Plant Phenome Journal

The Plant Phenome Journal, Volume 9, Issue 1, December 2026.
Abstract The Affordable Phenomics special topic in The Plant Phenome Journal showcased recent advances that expand the accessibility, cost‐effectiveness, and scalability of plant phenotyping technologies. This collection of 15 articles presented innovative approaches, ranging from low‐cost sensors and open‐source analytical pipelines to artificial ...
Valerio Hoyos‐Villegas, Michael A. Gore   +1 more
wiley   +1 more source

Philosophy of phenomic prediction and its incompatibility with causal inference

The Plant Phenome Journal, Volume 9, Issue 1, December 2026.
Abstract Breeding programs need to make decisions frequently to improve populations and develop varieties efficiently. These needs led to the development of genomic prediction in the early 2000s and phenomic prediction in the mid‐2010s. In practice, phenomic prediction techniques rely on the same statistical tools and computational frameworks as other ...
Mitchell J. Feldmann, Fangyi Wang, Daniel E. Runcie   +2 more
wiley   +1 more source