scholarly journals A Genome-wide SNP Genotyping Array Reveals Patterns of Global and Repeated Species-Pair Divergence in Sticklebacks

2012 ◽  
Vol 22 (1) ◽  
pp. 83-90 ◽  
Author(s):  
Felicity C. Jones ◽  
Yingguang Frank Chan ◽  
Jeremy Schmutz ◽  
Jane Grimwood ◽  
Shannon D. Brady ◽  
...  
2016 ◽  
Vol 52 (1) ◽  
pp. 85-92 ◽  
Author(s):  
L. S. Zhou ◽  
J. Li ◽  
J. Yang ◽  
C. L. Liu ◽  
X. H. Xie ◽  
...  

PLoS ONE ◽  
2009 ◽  
Vol 4 (6) ◽  
pp. e6034 ◽  
Author(s):  
Siim Sõber ◽  
Elin Org ◽  
Katrin Kepp ◽  
Peeter Juhanson ◽  
Susana Eyheramendy ◽  
...  

2020 ◽  
Vol 6 (4) ◽  
pp. e444
Author(s):  
Erika Ignatius ◽  
Pirjo Isohanni ◽  
Max Pohjanpelto ◽  
Päivi Lahermo ◽  
Simo Ojanen ◽  
...  

ObjectiveTo characterize the genetic background of molecularly undefined childhood-onset ataxias in Finland.MethodsThis study examined a cohort of patients from 50 families with onset of an ataxia syndrome before the age of 5 years collected from a single tertiary center, drawing on the advantages offered by next generation sequencing. A genome-wide genotyping array (Illumina Infinium Global Screening Array MD-24 v.2.0) was used to search for copy number variation undetectable by exome sequencing.ResultsExome sequencing led to a molecular diagnosis for 20 probands (40%). In the 23 patients examined with a genome-wide genotyping array, 2 additional diagnoses were made. A considerable proportion of probands with a molecular diagnosis had de novo pathogenic variants (45%). In addition, the study identified a de novo variant in a gene not previously linked to ataxia: MED23. Patients in the cohort had medically actionable findings.ConclusionsThere is a high heterogeneity of causative mutations in this cohort despite the defined age at onset, phenotypical overlap between patients, the founder effect, and genetic isolation in the Finnish population. The findings reflect the heterogeneous genetic background of ataxia seen worldwide and the substantial contribution of de novo variants underlying childhood ataxia.


Genome ◽  
2018 ◽  
Vol 61 (10) ◽  
pp. 767-770 ◽  
Author(s):  
Ilze Skujina ◽  
Clare L. Winton ◽  
Matthew J. Hegarty ◽  
Robert McMahon ◽  
Deborah M. Nash ◽  
...  

Height is an important characteristic in the equine industry although little is known about its genetic control in native British breeds of ponies. This study aimed to map QTL data with the withers height in four pony breeds native to the British Isles, including two different sections within Welsh Cobs. In this study, a genome-wide analysis approach using the Illumina EquineSNP50 Infinium BeadChip was applied to 105 ponies and cobs. Analysis identified 222 highly significant height-associated SNPs (P ≤ 10−5), among which three SNPs on ECA9 have also been previously reported elsewhere. The highest number of significant SNPs associated to height in the native British horses were located on ECA1, ECA8, and ECA16.


PLoS ONE ◽  
2014 ◽  
Vol 9 (12) ◽  
pp. e114576 ◽  
Author(s):  
Nili Raz ◽  
Yael Danin-Poleg ◽  
Ryan B. Hayman ◽  
Yudi Bar-On ◽  
Alex Linetsky ◽  
...  

Diabetes ◽  
2017 ◽  
Vol 66 (8) ◽  
pp. 2284-2295 ◽  
Author(s):  
Paolo Piaggi ◽  
Ivica Masindova ◽  
Yunhua L. Muller ◽  
Josep Mercader ◽  
Gregory B. Wiessner ◽  
...  

2018 ◽  
Author(s):  
Haiko Schurz ◽  
Craig J Kinnear ◽  
Chris Gignoux ◽  
Genevieve Wojcik ◽  
Paul D van Helden ◽  
...  

AbstractTuberculosis (TB), caused by Mycobacterium tuberculosis, is a complex disease with a known human genetic component. Males seem to be more affected than females and in most countries the TB notification rate is twice as high in males as in females. While socio-economic status, behaviour and sex hormones influence the male bias they do not fully account for it. Males have only one copy of the X chromosome, while diploid females are subject to X chromosome inactivation. In addition, the X chromosome codes for many immune-related genes, supporting the hypothesis that X-linked genes could contribute to TB susceptibility in a sex-biased manner. We report the first TB susceptibility genome-wide association study (GWAS) with a specific focus on sex-stratified autosomal analysis and the X chromosome. Individuals from an admixed South African population were genotyped using the Illumina Multi Ethnic Genotyping Array, specifically designed as a suitable platform for diverse and admixed populations. Association testing was done on the autosome and X chromosome in a sex stratified and combined manner. SNP association testing was not statistically significant using a stringent cut-off for significance but revealed likely candidate genes that warrant further investigation. A genome wide interaction analysis detected 16 significant interactions. Finally, the results highlight the importance of sex-stratified analysis as strong sex-specific effects were identified on both the autosome and X chromosome.


Genetica ◽  
2014 ◽  
Vol 142 (5) ◽  
pp. 441-450 ◽  
Author(s):  
Wei Zhou ◽  
Ranran Liu ◽  
Jingjing Zhang ◽  
Maiqing Zheng ◽  
Peng Li ◽  
...  

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