Single nucleotide variations: biological impact and theoretical interpretation

P Katsonis, A Koire, SJ Wilson, TK Hsu, RC Lua… - Protein …, 2014 - Wiley Online Library
Genome‐wide association studies (GWAS) and whole‐exome sequencing (WES) generate
massive amounts of genomic variant information, and a major challenge is to identify which …

Neuregulin-1 and schizophrenia in the genome-wide association study era

MS Mostaid, D Lloyd, B Liberg, S Sundram… - Neuroscience & …, 2016 - Elsevier
Clinical and pre-clinical evidence has implicated neuregulin 1 (NRG1) as a critical
component in the pathophysiology of schizophrenia. However, the arrival of the genome …

How far from the SNP may the causative genes be?

A Brodie, JR Azaria, Y Ofran - Nucleic acids research, 2016 - academic.oup.com
While GWAS identify many disease-associated SNPs, using them to decipher disease
mechanisms is hindered by the difficulty in mapping SNPs to genes. Most SNPs are in non …

Genome-wide association analysis identifies genetic variations in subjects with myalgic encephalomyelitis/chronic fatigue syndrome

KA Schlauch, SF Khaiboullina, KL De Meirleir… - Translational …, 2016 - nature.com
Myalgic encephalomyelitis, also known as chronic fatigue syndrome or ME/CFS, is a
multifactorial and debilitating disease that has an impact on over 4 million people in the …

Genome wide association study and genomic selection of amino acid concentrations in soybean seeds

J Qin, A Shi, Q Song, S Li, F Wang, Y Cao… - Frontiers in Plant …, 2019 - frontiersin.org
Soybean is a major source of protein for human consumption and animal feed. Releasing
new cultivars with high nutritional value is one of the major goals in soybean breeding. To …

Limited evidence for classic selective sweeps in African populations

JM Granka, BM Henn, CR Gignoux, JM Kidd… - Genetics, 2012 - academic.oup.com
While hundreds of loci have been identified as reflecting strong-positive selection in human
populations, connections between candidate loci and specific selective pressures often …

Pleiotropy analysis of quantitative traits at gene level by multivariate functional linear models

Y Wang, A Liu, JL Mills, M Boehnke… - Genetic …, 2015 - Wiley Online Library
In genetics, pleiotropy describes the genetic effect of a single gene on multiple phenotypic
traits. A common approach is to analyze the phenotypic traits separately using univariate …

Prioritization of disease genes from GWAS using ensemble-based positive-unlabeled learning

N Kolosov, MJ Daly, M Artomov - European Journal of Human Genetics, 2021 - nature.com
A primary challenge in understanding disease biology from genome-wide association
studies (GWAS) arises from the inability to directly implicate causal genes from association …

Integrative pathway analysis of a genome-wide association study of V̇o2max response to exercise training

S Ghosh, JC Vivar, MA Sarzynski… - Journal of Applied …, 2013 - journals.physiology.org
We previously reported the findings from a genome-wide association study of the response
of maximal oxygen uptake (V̇o2max) to an exercise program. Here we follow up on these …

Insights into type 1 diabetes provided by genetic analyses

G Morahan - Current Opinion in Endocrinology, Diabetes and …, 2012 - journals.lww.com
Insights into type 1 diabetes provided by genetic analyses : Current Opinion in Endocrinology,
Diabetes and Obesity Insights into type 1 diabetes provided by genetic analyses : Current …