scholarly journals Contribution of Rare Germline Copy Number Variants and Single Nucleotide Polymorphisms to Familial Colorectal Cancer

2014 ◽  
Vol 25 ◽  
pp. iv166
Author(s):  
R.A. Rios Villacis ◽  
E.M. Santos ◽  
B.M. Rossi ◽  
D.M. Carraro ◽  
L.P. Kowalski ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Copy Number ◽  
Copy Number Variants ◽  
Nucleotide Polymorphisms ◽  
Familial Colorectal Cancer ◽  
Single Nucleotide

scholarly journals Genome wide analysis reveals single nucleotide polymorphisms associated with fatness and putative novel copy number variants in three pig breeds

BMC Genomics ◽  
2013 ◽  
Vol 14 (1) ◽  
pp. 784 ◽  
Author(s):  
Katie E Fowler ◽  
Ricardo Pong-Wong ◽  
Julien Bauer ◽  
Emily J Clemente ◽  
Christopher P Reitter ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Copy Number ◽  
Copy Number Variants ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genome Wide Analysis ◽  
Pig Breeds ◽  
Genome Wide

scholarly journals Copy number variant syndromes are frequent in schizophrenia: progressing towards a CNV-schizophrenia model

2019 ◽  
Author(s):  
Venuja Sriretnakumar ◽  
Clement C. Zai ◽  
Syed Wasim ◽  
Brianna Barsanti-Innes ◽  
James L. Kennedy ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Patient Population ◽  
Copy Number ◽  
Copy Number Variants ◽  
Copy Number Variant ◽  
Effect Sizes ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Genetic Studies ◽  
Immune Pathway

ABSTRACTThe genetic underpinnings of schizophrenia (SCZ) remain unclear. SCZ genetic studies thus far have only identified numerous single nucleotide polymorphisms with small effect sizes and a handful of copy number variants (CNVs). This study investigates the prevalence of well-characterized CNV syndromes and candidate CNVs within a cohort of 348 SCZ patients, and explores correlations to their phenotypic findings. There was an enrichment of syndromic CNVs in the cohort, as well as brain-related and immune pathway genes within the detected CNVs. SCZ patients with brain-related CNVs had increased CNV burden, neurodevelopmental features, and types of hallucinations. Based on these results, we propose a CNV-SCZ model wherein specific phenotypic profiles should be prioritized for CNV screening within the SCZ patient population.

The genomic basis of medicine

2020 ◽  
pp. 218-235
Author(s):  
Paweł Stankiewicz ◽  
James R. Lupski
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Complex Traits ◽  
Copy Number ◽  
Clinical Medicine ◽  
Association Studies ◽  
Copy Number Variants ◽  
Nucleotide Polymorphisms ◽  
Structural Variations ◽  
Single Nucleotide ◽  
Practical Applications

The first phase of the studies on genetic variation in humans has been focused on single nucleotide polymorphisms and common variation. The large number of single nucleotide polymorphisms identified has enabled successful genome-wide association studies for disease susceptibility risk of complex traits (e.g. diabetes and cancer), but for the most part has had limited practical applications in clinical medicine. This chapter examines the recent technological developments which have enabled a higher-resolution analysis of the human genome and its extensive submicroscopic structural variation, including copy-number variants. Copy-number variants involving dosage-sensitive genes result in several diseases and contribute to human diversity and evolution. An emerging group of genetic diseases have been described that result from DNA rearrangements (e.g. copy-number variants and other structural variations including copy-number neutral inversions and translocations), rather than from single nucleotide changes.

scholarly journals Single nucleotide polymorphisms in Wnt signaling and cell death pathway genes and susceptibility to colorectal cancer

2010 ◽  
Vol 31 (8) ◽  
pp. 1381-1386 ◽  
Author(s):  
B. Frank ◽  
M. Hoffmeister ◽  
N. Klopp ◽  
T. Illig ◽  
J. Chang-Claude ◽  
...  
Keyword(s):  
Colorectal Cancer ◽  
Cell Death ◽  
Single Nucleotide Polymorphisms ◽  
Wnt Signaling ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Cell Death Pathway
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