Results 261 to 270 of about 220,745 (323)

Upset plot showing the SNP sharing patterns of the five parent 2 accessions. Db-1 and Tsu-0 have the most unique SNPs, explaining why genotyping confidence scores generated using expectation maximization are higher for these accessions.

Matthew T. Parker (10217926), Samija Amar (21181930), José A. Campoy (9926142), Kristin Krause (19768812), Sergio Tusso (3340875), Magdalena Marek (4442668), Bruno Huettel (270014), Korbinian Schneeberger (71426)   +7 more
openalex   +1 more source

Prenatal Exome Sequencing Analysis in Fetuses With Structural Anomalies: A Multicenter Prospective Cohort Study With Practical Implications

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the diagnostic value of prenatal exome sequencing (ES) integrated with copy number variant (CNV) and single nucleotide variant (SNV) analysis (ES‐CNV/SNV) in fetuses with structural anomalies following negative chromosomal microarray analysis (CMA) and karyotyping, and to delineate the practical challenges encountered ...
Yulin Jiang, Haibo Li, Xiangyu Zhu, Liangpu Xu, Ying Chang, Fengqun Dong, Jianping Xiao, Jian Gao, Minyue Dong, Ying Peng, Hua Jin, Ting Wang, Xiaoxiao Xie, Lin Zhang, Hongmei Zhuang, Na Hao, Xiya Zhou, Hongna Wang, Ying You, Kun Ma, Rui Xiao, Qingwei Qi   +21 more
wiley   +1 more source

Subset pedigrees of the SNP genotyped cases, their close relatives and initial homozygosity mapping.

Leonardo Murgiano (492751), Jessica K. Niggel (22756468), Kei Takahashi (57099), Valérie L. Dufour (22756471), Catharina R. Grubaugh (22756474), Raghavi Sudharsan (693733), Jennifer C. Kwok (16830567), Doreen Becker (247005), Esha Banerjee (14561037), Wen-Mei Yu (583065), Tosso Leeb (81674), Cheng-Kui Qu (25237), William A. Beltran (11828609), Gustavo D. Aguirre (11828606)   +13 more
openalex   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

CRPPA exon 6–9 deletion as a founder mutation in Chinese patients with dystroglycanopathy

Pediatric Investigation, EarlyView.
Analysis of sixteen Chinese dystroglycanopathy patients reveals a founder mutation (CRPPA exon 6–9 deletion) in 25% of cases and expands the phenotypic spectrum from severe muscle‐eye‐brain disease to limb‐girdle muscular dystrophy. ABSTRACT Importance Dystroglycanopathies (DGPs) are a group of muscular dystrophies with abnormal glycosylation of ...
Jihang Luo, Yidan Liu, Danyu Song, Shiqi Yang, Xiaona Fu, Lin Ge, Cuijie Wei, Liya Cui, Yanbin Fan, Huaxia Luo, Yanwei He, Jin Xu, Qiang Shen, Yuxuan Guo, Motoi Kanagawa, Tatsushi Toda, Jingmin Wang, Hong Zhang, Hui Xiong   +18 more
wiley   +1 more source

Genetically predicted KIR2DS4 mediate the association between gut microbe K10 and osteoporosis fractures: A mediation Mendelian randomization study

PM&R, EarlyView.
Abstract Background Osteoporosis fractures pose a significant public health concern, leading to substantial morbidity and mortality rates. The emerging evidence on the potential link between gut microbiota, proteins, and osteoporosis fractures suggests a complex relationship that warrants further investigation.
Qiong Wang, Qing Kuang, Cheng Chen, Binru Wang, Wei Xiang, Xinming Li, Jianjiao Mou   +6 more
wiley   +1 more source

Enhanced SNP Genotyping with Symmetric Multinomial Logistic Regression [PDF]

Malte Bodkergaard Nielsen, Poul Svante Eriksen, Helle Smidt Mogensen, Niels Morling, Mikkel Meyer Andersen   +4 more
openalex   +1 more source

rs6971 TSPO polymorphism in Parkinson's disease

Movement Disorders, EarlyView.
Bina Patel, Marta Camacho, Jonathan R. Evans, David P. Breen, Thomas Foltynie, Sarah L. Mason, Gemma Cummins, Ruwani Wijeyekoon, Roger A. Barker, Caroline Helen Williams‐Gray   +9 more
wiley   +1 more source

The potential of seedbank digital information in plant conservation

PLANTS, PEOPLE, PLANET, EarlyView.
Seedbanks are vital for biodiversity conservation, but their potential remains underutilised due to a limited understanding of the intraspecific genetic diversity they hold. By leveraging digitised data associated with seedbank collections, such as sampling locations, number of maternal plants and seed traits, we can attempt the estimation of genetic ...
Roberta Gargiulo, Sean Hoban, Anne M. Visscher, Pablo Gómez Barreiro, Roberta L. C. Dayrell, Kiran L. Dhanjal‐Adams, Alice R. Hudson, Charlotte E. Seal, Simon Kallow, Jan Sala, Lee Oliver, Naomi Carvey, Ted Chapman, Efisio Mattana, Clare Callow, Christopher Cockel, Michael F. Fay, Juan Viruel, Inna Birchenko, Stephanie Miles, Timothy Pearce, Paul Kersey, Elinor Breman, Kate A. Hardwick   +23 more
wiley   +1 more source