Results 311 to 320 of about 3,983,457 (419)

Refinement of primate copy number variationhotspots identifies candidate genomic regions evolving under positive selection [PDF]

, 2011
Ömer Gökçümen, Paul Babb, Rebecca C. Iskow, Qihui Zhu, Xinghua Shi, Ryan E. Mills, Iuliana Ionita‐Laza, Eric J. Vallender, Andrew G. Clark, Welkin E. Johnson, Charles Lee   +10 more
openalex   +1 more source

FGF14 GAA Intronic Expansion in Unsolved Adult‐Onset Ataxia in the Care4Rare Canada Consortium

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Spinocerebellar ataxias (SCA) represent a clinically and genetically heterogeneous group of progressive neurodegenerative diseases with prominent cerebellar atrophy. Recently, a novel pathogenic repeat expansion in intron 1 of FGF14 was identified, causing adult‐onset SCA (SCA27B). We aimed to determine the proportion
Alexanne Cuillerier, Giulia F. Del Gobbo, Layla Mackay, Erika Wall, Madeline Couse, Laura M. McDonell, Mireille Cloutier, Matt C. Danzi, Jodi Warman‐Chardon, Pierre R. Bourque, Oksana Suchowersky, Alan Mears, Luke Seldenthuis, Wendy Mears, Laura Larrigan, Alexandre White‐Brown, Gerald Pfeffer, Dennis E. Bulman, David Dyment, Care4Rare Canada Consortium, Kym M. Boycott   +20 more
wiley   +1 more source

ShinyGS-a graphical toolkit with a serial of genetic and machine learning models for genomic selection: application, benchmarking, and recommendations. [PDF]

Front Plant Sci
Yu L, Dai Y, Zhu M, Guo L, Ji Y, Si H, Cheng L, Zhao T, Zan Y.   +8 more
europepmc   +1 more source

Accuracy of multi-trait genomic selection using different methods [PDF]

, 2011
M.P.L. Calus, R.F. Veerkamp
openalex   +1 more source

A Novel CHMP2B Splicing Variant in Atypical Presentation of Familial Frontotemporal Lobar Degeneration

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra, Sara Bernal, David Almenta, Josefina Pérez‐Blanco, Valle Camacho, Isabel Sala, Mª Belén Sánchez‐Saudinós, Jesús García Castro, Judit Selma‐González, Miguel Ángel Santos‐Santos, Álvaro Carbayo, Janina Turon‐Sans, Ricard Rojas‐Garcia, Daniel Alcolea, Juan Fortea, Alberto Lleó, Oriol Dols‐Icardo, Ignacio Illán‐Gala   +17 more
wiley   +1 more source

Evaluation of genomic selection models using whole genome sequence data and functional annotation in Belgian Blue cattle. [PDF]

Genet Sel Evol
Yuan C, Gillon A, Gualdrón Duarte JL, Takeda H, Coppieters W, Georges M, Druet T.   +6 more
europepmc   +1 more source

Enhancing Genetic Gain through Genomic Selection: From Livestock to Plants

Plant Communications, 2019
Yunbi Xu, Xiaogang Liu, Junjie Fu, Hongwu Wang, Jiankang Wang, Changling Huang, B. Prasanna, M. Olsen, Guoying Wang, A. Zhang   +9 more
semanticscholar   +1 more source

KIF5A p.Pro986Leu Risk Variant and Accelerated Progression of Amyotrophic Lateral Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT This study explored the impact of KIF5A rs113247976 (p.Pro986Leu), a risk allele for amyotrophic lateral sclerosis (ALS), on phenotypic variability in two Italian ALS cohorts (discovery, n = 865; replication, n = 1174). The minor allele (T) frequency was 0.015.
Arianna Manini, Rosario Vasta, Alberto Brusati, Francesco Scheveger, Silvia Peverelli, Alessio Maranzano, Alberto Doretti, Francesco Gentile, Eleonora Colombo, Maura Brunetti, Cristina Moglia, Antonio Canosa, Umberto Manera, Maurizio Grassano, Davide Gentilini, Stefano Messina, Federico Verde, Claudia Morelli, John E. Landers, Bryan J. Traynor, Adriano Chiò, Vincenzo Silani, Andrea Calvo, Antonia Ratti, Nicola Ticozzi   +24 more
wiley   +1 more source

Optimizing fully-efficient two-stage models for genomic selection using open-source software. [PDF]

Plant Methods
Fernández-González J, Isidro Y Sánchez J.   +1 more
europepmc   +1 more source

A PANoptosis‐Based Signature for Survival and Immune Predication in Glioblastoma Multiforme

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PANoptosis is a concept of total cell death characterized by pyroptosis, apoptosis, and necroptosis. We aimed to explore the clinical significance of PANoptosis‐related genes (PARGs) in glioblastoma multiforme (GBM). Methods Expression profiles of GBM were downloaded from the XENA database as a training dataset to construct a ...
Jun Yang, Da Lin, Dongyuan Liu, Dongxu Zhang, Hao Wang   +4 more
wiley   +1 more source