Toward the most ideal case-control design with related and unrelated dogs in whole-exome sequencing studies

2015 ◽  
Vol 47 (2) ◽  
pp. 200-207 ◽  
Author(s):  
B.J.G. Broeckx ◽  
F. Coopman ◽  
G.E.C. Verhoeven ◽  
S. De Keulenaer ◽  
E. De Meester ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Control Design ◽  
Case Control ◽  
Ideal Case ◽  
Whole Exome ◽  
Sequencing Studies

SEX-SPECIFIC ANALYSIS OF THE ADSP CASE-CONTROL WHOLE-EXOME SEQUENCING DATASET

2017 ◽  
Vol 13 (7) ◽  
pp. P571
Author(s):  
Brian W. Kunkle ◽  
Kara L. Hamilton-Nelson ◽  
Adam C. Naj ◽  
Dan Lancour ◽  
Amanda B. Kuzma ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Case Control ◽  
Whole Exome ◽  
Specific Analysis

scholarly journals Erratum to: a SNP profiling panel for sample tracking in whole-exome sequencing studies

2015 ◽  
Vol 7 (1) ◽  
Author(s):  
Reuben J Pengelly ◽  
Jane Gibson ◽  
Gaia Andreoletti ◽  
Andrew Collins ◽  
Christopher J Mattocks ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Sample Tracking ◽  
Whole Exome ◽  
Sequencing Studies

226. Whole Exome Sequencing (WES) in a Case-control Post Traumatic Stress Disorder (PTSD) Cohort

2017 ◽  
Vol 81 (10) ◽  
pp. S93
Author(s):  
Adriana Lori ◽  
Nara Sobreira ◽  
Isum D Ward Ward ◽  
Lynn M. Almli ◽  
Abigail Powers ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Post Traumatic Stress Disorder ◽  
Traumatic Stress ◽  
Stress Disorder ◽  
Case Control ◽  
Post Traumatic Stress ◽  
Whole Exome ◽  
Post Traumatic ◽  
Control Post

scholarly journals Effective filtering strategies to improve data quality from population-based whole exome sequencing studies

2014 ◽  
Vol 15 (1) ◽  
pp. 125 ◽  
Author(s):  
Andrew R Carson ◽  
Erin N Smith ◽  
Hiroko Matsui ◽  
Sigrid K Brækkan ◽  
Kristen Jepsen ◽  
...  
Keyword(s):  
Data Quality ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Population Based ◽  
Improve Data Quality ◽  
Whole Exome ◽  
Sequencing Studies

New insights into hallux valgus by whole exome sequencing study

2021 ◽  
pp. 153537022110086
Author(s):  
Jun Jia ◽  
Junyi Li ◽  
Huiqi Qu ◽  
Mengyu Li ◽  
Sipeng Zhang ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Hallux Valgus ◽  
Whole Exome Sequencing ◽  
Molecular Mechanisms ◽  
Chronic Arthritis ◽  
Large Contribution ◽  
Single Nucleotide Variants ◽  
Genetic Heritability ◽  
Whole Exome ◽  
Sequencing Studies

The traditional view is that the occurrence and development of hallux valgus (HV) are mainly due to environmental factors. Recent studies have suggested the large contribution of genetic heritability to HV, but it remains elusive about the genetic variants underlying the development of HV. To gain knowledge about the molecular mechanisms of HV pathogenesis by genetic approach, whole exome sequencing studies were performed in 10 individuals (7 affected by HV and 3 unaffected) from three independent families. Specific mutations were found to be related to the pathogenesis of HV and conform to the laws of inheritance. A total of 36 genes with functional candidate single nucleotide variants were identified. Genetic predisposition plays an important role in the development of HV. Interestingly, some of these genes are related to chronic arthritis, such as the complement encoding gene C7, or are related to long toe or long fingers, such as TTN, COL6A3, LARS, FIG4, and CBS. This study identified rare potentially pathogenic mutations represented by genes related to digital anomalies and chronic arthritis underlying the familial types of HV, which acquired new insights into the genetic and physiological foundations of HV, thereby might improve accurate prevention and drug development for HV.

scholarly journals Clinical and Molecular Update on the Fourth Reported Family with Hamamy Syndrome

2021 ◽  
pp. 1-9
Author(s):  
André Mégarbané ◽  
Sayeeda Hana ◽  
Hala Mégarbané ◽  
Christel Castro ◽  
Sylvain Baulande ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Exome Sequencing ◽  
Missense Mutation ◽  
Whole Exome Sequencing ◽  
Bone Fragility ◽  
Dentinogenesis Imperfecta ◽  
Review Of The Literature ◽  
Obligate Carrier ◽  
Whole Exome ◽  
Sequencing Studies

We report on 2 cousins, a girl and a boy, born to first-cousin Lebanese parents with Hamamy syndrome, exhibiting developmental delay, intellectual disability, severe telecanthus, abnormal ears, dentinogenesis imperfecta, and bone fragility. Whole-exome sequencing studies performed on the 2 affected individuals and one obligate carrier revealed the presence of a homozygous c.503G&#x3e;A (p.Arg168His) missense mutation in <i>IRX5</i> in both sibs, not reported in any other family. Review of the literature and differential diagnoses are discussed.

Whole-exome sequencing studies of non-functioning pituitary adenomas

2013 ◽  
pp. 1-1
Author(s):  
Paul Newey ◽  
M Andrew Nesbit ◽  
Andrew Rimmer ◽  
Rosie Head ◽  
Caroline Gorvin ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Pituitary Adenomas ◽  
Whole Exome ◽  
Sequencing Studies ◽  
Non Functioning Pituitary Adenomas
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