P2-106: AFRICAN AMERICAN WHOLE EXOME SEQUENCING SUGGESTS RISK CODING VARIANTS IN IDH1 GENE

2006 ◽  
Vol 14 (7S_Part_13) ◽  
pp. P709-P710
Author(s):  
Farid Rajabli ◽  
Kara L. Hamilton-Nelson ◽  
Jeffery M. Vance ◽  
Eden R. Martin ◽  
Anthony J. Griswold ◽  
...  
Keyword(s):  
African American ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Coding Variants

scholarly journals Whole-Exome Sequencing of 2,000 Danish Individuals and the Role of Rare Coding Variants in Type 2 Diabetes

2014 ◽  
Vol 94 (3) ◽  
pp. 479
Author(s):  
Kirk E. Lohmueller ◽  
Thomas Sparsø ◽  
Qibin Li ◽  
Ehm Andersson ◽  
Thorfinn Korneliussen ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Coding Variants

scholarly journals O1-09-02: Whole Exome Sequencing of Late Onset Multiplex Families Identifies Rare Coding Variants in Known and Novel Alzheimer’s Disease Genes

2016 ◽  
Vol 12 ◽  
pp. P196-P197
Author(s):  
Holly N. Cukier ◽  
Brian W. Kunkle ◽  
Sophie Rolati ◽  
Patrice L. Whitehead ◽  
Jeffery M. Vance ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Late Onset ◽  
Disease Genes ◽  
Whole Exome ◽  
Multiplex Families ◽  
Coding Variants

scholarly journals Whole exome sequencing identifies rare protein-coding variants in Behçet's disease

2015 ◽  
pp. n/a-n/a ◽  
Author(s):  
Mikhail Ognenovski ◽  
Paul Renauer ◽  
Elizabeth Gensterblum ◽  
Ina Kötter ◽  
Theodoros Xenitidis ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Behçet’S Disease ◽  
Behcet’S Disease ◽  
Behçet's Disease ◽  
Protein Coding ◽  
Behcet's Disease ◽  
Whole Exome ◽  
Coding Variants

scholarly journals Linkage analysis and whole exome sequencing identify a novel candidate gene in a Dutch multiple sclerosis family

2018 ◽  
Vol 25 (7) ◽  
pp. 909-917 ◽  
Author(s):  
Julia Y Mescheriakova ◽  
Annemieke JMH Verkerk ◽  
Najaf Amin ◽  
André G Uitterlinden ◽  
Cornelia M van Duijn ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Complex Disease ◽  
Rare Variants ◽  
Missense Variant ◽  
Joint Effect ◽  
Genome Wide ◽  
Whole Exome ◽  
Coding Variants

Background: Multiple sclerosis (MS) is a complex disease resulting from the joint effect of many genes. It has been speculated that rare variants might explain part of the missing heritability of MS. Objective: To identify rare coding genetic variants by analyzing a large MS pedigree with 11 affected individuals in several generations. Methods: Genome-wide linkage screen and whole exome sequencing (WES) were performed to identify novel coding variants in the shared region(s) and in the known 110 MS risk loci. The candidate variants were then assessed in 591 MS patients and 3169 controls. Results: Suggestive evidence for linkage was obtained to 7q11.22-q11.23. In WES data, a rare missense variant p.R183C in FKBP6 was identified that segregated with the disease in this family. The minor allele frequency was higher in an independent cohort of MS patients than in healthy controls (1.27% vs 0.95%), but not significant (odds ratio (OR) = 1.33 (95% confidence interval (CI): 0.8–2.4), p = 0.31). Conclusion: The rare missense variant in FKBP6 was identified in a large Dutch MS family segregating with the disease. This association to MS was not found in an independent MS cohort. Overall, genome-wide studies in larger cohorts are needed to adequately investigate the role of rare variants in MS risk.

scholarly journals Identification of rare coding variants associated with Kawasaki disease by whole exome sequencing

2021 ◽  
Vol 19 (4) ◽  
pp. e38
Author(s):  
Jae-Jung Kim ◽  
Young Mi Hong ◽  
Sin Weon Yun ◽  
Kyung-Yil Lee ◽  
Kyung Lim Yoon ◽  
...  
Keyword(s):  
Coronary Artery ◽  
Kawasaki Disease ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Genetic Variants ◽  
Odds Ratio ◽  
Coronary Artery Aneurysms ◽  
Whole Exome ◽  
Pediatric Vasculitis ◽  
Coding Variants

Kawasaki disease (KD) is an acute pediatric vasculitis that affects genetically susceptible infants and children. To identify coding variants that influence susceptibility to KD, we conducted whole exome sequencing of 159 patients with KD and 902 controls, and performed a replication study in an independent 586 cases and 732 controls. We identified five rare coding variants in five genes (FCRLA, PTGER4, IL17F, CARD11, and SIGLEC10) associated with KD (odds ratio [OR], 1.18–4.41; p = 0.0027–0.031). We also performed association analysis in 26 KD patients with coronary artery aneurysms (CAAs; diameter > 5 mm) and 124 patients without CAAs (diameter < 3 mm), and identified another five rare coding variants in five genes (FGFR4, IL31RA, FNDC1, MMP8, and FOXN1), which may be associated with CAA (OR, 3.89–37.3; p = 0.0058–0.0261). These results provide insights into new candidate genes and genetic variants potentially involved in the development of KD and CAA.

scholarly journals Whole-Exome Sequencing of 2,000 Danish Individuals and the Role of Rare Coding Variants in Type 2 Diabetes

2013 ◽  
Vol 93 (6) ◽  
pp. 1072-1086 ◽  
Author(s):  
Kirk E. Lohmueller ◽  
Thomas Sparsø ◽  
Qibin Li ◽  
Ehm Andersson ◽  
Thorfinn Korneliussen ◽  
...  
Keyword(s):  
Type 2 Diabetes ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Whole Exome ◽  
Coding Variants

scholarly journals Whole-Exome Sequencing Identifies Rare and Low-Frequency Coding Variants Associated with LDL Cholesterol

2014 ◽  
Vol 94 (2) ◽  
pp. 233-245 ◽  
Author(s):  
Leslie A. Lange ◽  
Youna Hu ◽  
He Zhang ◽  
Chenyi Xue ◽  
Ellen M. Schmidt ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Ldl Cholesterol ◽  
Low Frequency ◽  
Frequency Coding ◽  
Whole Exome ◽  
Coding Variants
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