603 COMBINING EXOME SEQUENCING WITH EXCLUSION LINKAGE ANALYSIS AS A TOOL TO UNRAVEL THE MOLECULAR BASIS OF A COMMON GENETIC DISEASE

2011 ◽  
Vol 12 (1) ◽  
pp. 127
Author(s):  
M.M. Motazacker ◽  
R. Huijgen ◽  
J. Peter ◽  
J.C. Defesche ◽  
J.J.R Kastelein ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Exome Sequencing ◽  
Genetic Disease ◽  
Molecular Basis

scholarly journals Use of a gene-based case-control association approach in exome sequencing data to elucidate the molecular basis of a mendelian phenotype

The Lancet ◽  
2017 ◽  
Vol 389 ◽  
pp. S14
Author(s):  
Panagiotis I Sergouniotis ◽  
Anthony G Robson ◽  
Mohammed E El-Asrag ◽  
Manir Ali ◽  
Graham E Holder ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Molecular Basis ◽  
Case Control ◽  
Sequencing Data ◽  
Exome Sequencing Data ◽  
Control Association

Linkage analysis and whole exome sequencing reveals AHNAK2 as a novel genetic cause for autosomal recessive CMT in a Malaysian family

Neurogenetics ◽  
2019 ◽  
Vol 20 (3) ◽  
pp. 117-127 ◽  
Author(s):  
Shelisa Tey ◽  
Nortina Shahrizaila ◽  
Alexander P. Drew ◽  
Sarimah Samulong ◽  
Khean-Jin Goh ◽  
...  
Keyword(s):  
Linkage Analysis ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Autosomal Recessive ◽  
Whole Exome ◽  
Autosomal Recessive Cmt

scholarly journals Informed consent for exome sequencing research in families with genetic disease: The emerging issue of incidental findings

2014 ◽  
Vol 164 (11) ◽  
pp. 2745-2752 ◽  
Author(s):  
Amanda L. Bergner ◽  
Juli Bollinger ◽  
Karen S. Raraigh ◽  
Crystal Tichnell ◽  
Brittney Murray ◽  
...  
Keyword(s):  
Informed Consent ◽  
Exome Sequencing ◽  
Genetic Disease ◽  
Incidental Findings

scholarly journals Performance of the nonparametric linkage analysis using GENEHUNTER for a complicated genetic disease

1999 ◽  
Vol 17 (S1) ◽  
pp. S611-S614 ◽  
Author(s):  
Qimei He ◽  
Barabara Berger Nemesure ◽  
Nancy Role Mendell
Keyword(s):  
Linkage Analysis ◽  
Genetic Disease ◽  
Nonparametric Linkage Analysis
Sign in / Sign up

Export Citation Format

Share Document