Results 211 to 220 of about 26,875,751 (309)

An Inverse-Selection-Probability Weighted Approach for Real-World Progression-Free Survival With Left-Truncated Clinico-Genomic Data. [PDF]

Pharm Stat
Liu Y, Hyun SW, Sangli C, Beauchamp K, Islam F, Shin D.   +5 more
europepmc   +1 more source

GBS‐MeDIP: A method for the simultaneous identification of genetic and epigenetic variants in tumors

FEBS Open Bio, EarlyView.
GBS‐MeDIP combines DNA sequencing with enrichment of methylated DNA to profile genetic and epigenetic variation in the same reduced genomic fraction. Applied to gastric cancer and parathyroid tumors, it identifies sequence variants, copy number changes, and differentially methylated regions together, helping distinguish true epigenetic changes from ...
Fábio Pértille, Shiva Rezaei, Julia Uffenorde, Oliver Gimm, Mohammad Ali Hosseinpour Feizi, Luiz Lehmann Coutinho, Carlos Guerrero‐Bosagna   +6 more
wiley   +1 more source

Decolonizing genomic data ownership: a qualitative study of legal practices and access in Uganda. [PDF]

BMC Med Ethics
Sebatta DE, Singh S, Oga J, Kyaddondo D, Barugahare J, Sekalala S, Mulumba M, Mwaka E.   +7 more
europepmc   +1 more source

Genomic Data Describe Population Structure but Struggle to Estimate Directed Connectivity Networks. [PDF]

Mol Ecol Resour
Sant C, Forcioli D, Fauvelot C, Irisson JO.   +3 more
europepmc   +1 more source

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

On the use of generative models for demographic inference in malaria vectors from genomic data. [PDF]

G3 (Bethesda)
Eneli AA, Siu PC, Perez MF, Burt A, Fumagalli M, Mathieson S.   +5 more
europepmc   +1 more source

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Characterizing core outcomes of responsible stewardship for human genomic data in the cloud. [PDF]

BMC Med Genomics
Rahimzadeh V, Walsh B, Rehm HL, Cho M, McGuire AL.   +4 more
europepmc   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Global distribution of mcr-carrying bacteria: an analysis of genomic data. [PDF]

BMC Med Genomics
Dossouvi KM, Sellera FP, Ibadin EE, Bouyo T, Kanzin D, Ba BS, Dossim S, El Kelish A, Camara M.   +8 more
europepmc   +1 more source