Results 161 to 170 of about 5,407 (236)

Mapping Causal Biology: Mendelian Randomization in the Era of Big Data

Med Research, EarlyView.
Mendelian randomization (MR) leverages genetic variants to mitigate confounding biases in causal inference. This review systematically maps MR's methodological evolution, highlights its expanding applications in epidemiology and drug target validation, and outlines future directions for overcoming current biases through dynamic, multi‐omics, and cross ...
Xuanlu Shen, Chunrun Qu, Zeyu Wang, Jinglin Zhou, Hongwei Liu, Yingjie Li, Bowei Liu, Hao Zhang, Nan Zhang, Jingwei Zhang, Quan Cheng   +10 more
wiley   +1 more source

Chromosome Painting in Neotropical Long- and Short-Tailed Parrots (Aves, Psittaciformes): Phylogeny and Proposal for a Putative Ancestral Karyotype for Tribe Arini. [PDF]

Genes (Basel), 2018
de Oliveira Furo I, Kretschmer R, O'Brien PCM, Pereira JC, Del Valle Garnero A, Gunski RJ, Ferguson-Smith MA, de Oliveira EHC.   +7 more
europepmc   +1 more source

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi‐omics

Movement Disorders, EarlyView.
Abstract Background Long‐read sequencing and multi‐omic analytical frameworks are increasingly being adopted in rare disease diagnostics. However, clinical workflows comprehensively integrating these methodologies remain uncommon. Objective This study aimed to assess the potential and limitations of integrating long‐read genomic, transcriptomic, and ...
Ugo Sorrentino, Melanie Brugger, Alice Saparov, Ivana Dzinovic, Philip Harrer, Sandy Lösecke, Kevork Derderian, Martin Pavlov, Robert Kopajtich, Holger Prokisch, Arcangela Iuso, Maria Mazurkiewicz‐Bełdzińska, Deike Weiss, Christina Ludwig, Miriam Abele, Julia Mergner, Juliane Winkelmann, Theresa Brunet, Michał Schinwelski, Elisabeth Graf, Katja Kloth‐Stachnau, Theresia Herget, Magdalena Krygier, Michael Zech   +23 more
wiley   +1 more source

High-resolution chromosome painting with repetitive and single-copy oligonucleotides in Arachis species identifies structural rearrangements and genome differentiation. [PDF]

BMC Plant Biol, 2018
Du P, Li L, Liu H, Fu L, Qin L, Zhang Z, Cui C, Sun Z, Han S, Xu J, Dai X, Huang B, Dong W, Tang F, Zhuang L, Han Y, Qi Z, Zhang X.   +17 more
europepmc   +1 more source

Interdiction Models and Heuristics for Graph Propagation

Networks, EarlyView.
ABSTRACT Given a graph G=(V,E)$$ G=\left(V,E\right) $$ and a set S⊂V$$ S\subset V $$ of activated/infected nodes, we consider the problem of determining the set of c$$ c $$ nodes that minimizes the network propagation on the subgraph that results from the removal of those c$$ c $$ nodes. To measure network propagation, we assume that a node i$$ i $$ is
Agostinho Agra, José Maria Samuco
wiley   +1 more source

2D and 3D chromosome painting in malaria mosquitoes. [PDF]

J Vis Exp, 2014
George P, Sharma A, Sharakhov IV.
europepmc   +1 more source

Histiocytosis development and clinical variation through the lens of genomics

The Journal of Pathology, EarlyView.
Abstract Histiocytic neoplasms are rare haematologic diseases characterised by clonal expansions of cells with a monocyte, macrophage or dendritic cell phenotype. Their clinical manifestations are diverse, ranging from indolent lesions to aggressive systemic disease.
Paul G Kemps, Astrid GS van Halteren, Tom van Wezel, Pancras CW Hogendoorn   +3 more
wiley   +1 more source

Segmental paleotetraploidy revealed in sterlet (Acipenser ruthenus) genome by chromosome painting. [PDF]

Mol Cytogenet, 2015
Romanenko SA, Biltueva LS, Serdyukova NA, Kulemzina AI, Beklemisheva VR, Gladkikh OL, Lemskaya NA, Interesova EA, Korentovich MA, Vorobieva NV, Graphodatsky AS, Trifonov VA.   +11 more
europepmc   +1 more source

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

Whole chromosome painting of B chromosomes of the red-eye tetra Moenkhausia sanctaefilomenae (Teleostei, Characidae). [PDF]

Comp Cytogenet, 2015
Scudeler PE, Diniz D, Wasko AP, Oliveira C, Foresti F.   +4 more
europepmc   +1 more source