scholarly journals Rapid positional cloning of zebrafish mutations by linkage and homozygosity mapping using whole-genome sequencing

Development ◽  
2012 ◽  
Vol 139 (22) ◽  
pp. 4280-4290 ◽  
Author(s):  
N. Obholzer ◽  
I. A. Swinburne ◽  
E. Schwab ◽  
A. V. Nechiporuk ◽  
T. Nicolson ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Positional Cloning ◽  
Homozygosity Mapping ◽  
Whole Genome

scholarly journals Fast Homozygosity Mapping and Identification of a Zebrafish ENU-Induced Mutation by Whole-Genome Sequencing

PLoS ONE ◽  
2012 ◽  
Vol 7 (4) ◽  
pp. e34671 ◽  
Author(s):  
Marianne L. Voz ◽  
Wouter Coppieters ◽  
Isabelle Manfroid ◽  
Ariane Baudhuin ◽  
Virginie Von Berg ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Homozygosity Mapping ◽  
Whole Genome ◽  
Induced Mutation

scholarly journals Homozygosity mapping and whole-genome sequencing reveals a deep intronic PROM1 mutation causing cone–rod dystrophy by pseudoexon activation

2015 ◽  
Vol 24 (3) ◽  
pp. 459-462 ◽  
Author(s):  
Anja K Mayer ◽  
Klaus Rohrschneider ◽  
Tim M Strom ◽  
Nicola Glöckle ◽  
Susanne Kohl ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Homozygosity Mapping ◽  
Whole Genome

scholarly journals Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation inPOMGNT1to Autosomal Recessive Retinitis Pigmentosa

2016 ◽  
Vol 57 (8) ◽  
pp. 3601 ◽  
Author(s):  
Nana Hsiang-Hua Wang ◽  
Shih-Jen Chen ◽  
Chi-Fan Yang ◽  
Hui-Wen Chen ◽  
Hui-Ping Chuang ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Whole Genome Sequencing ◽  
Missense Mutation ◽  
Genome Sequencing ◽  
Autosomal Recessive ◽  
Homozygosity Mapping ◽  
Whole Genome

Utility of Whole Genome Sequencing in diagnosing complex disorders: lesson from renal tubular disorders

2018 ◽  
Author(s):  
Mark Stevenson ◽  
Alistair T Pagnamenta ◽  
Heather G Mack ◽  
Judith A Savige ◽  
Kate E Lines ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome ◽  
Complex Disorders ◽  
Tubular Disorders ◽  
Renal Tubular Disorders ◽  
Renal Tubular

1722-P: Colocalization of TOPMed Whole Genome Sequencing Analysis and Tissue-Specific eQTL Signals Detects Target Genes for Type 2 Diabetes Risk

Diabetes ◽  
2019 ◽  
Vol 68 (Supplement 1) ◽  
pp. 1722-P
Author(s):  
MINDY D. SZETO ◽  
HEATHER M. HIGHLAND ◽  
ALISA MANNING ◽  
Keyword(s):  
Type 2 Diabetes ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Target Genes ◽  
Diabetes Risk ◽  
Whole Genome ◽  
Sequencing Analysis ◽  
Tissue Specific

0306 Exploring the feasibility of using copy number variants as genetic markers through large-scale whole genome sequencing experiments

2016 ◽  
Vol 94 (suppl_5) ◽  
pp. 146-146
Author(s):  
D. M. Bickhart ◽  
L. Xu ◽  
J. L. Hutchison ◽  
J. B. Cole ◽  
D. J. Null ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genetic Markers ◽  
Genome Sequencing ◽  
Copy Number ◽  
Large Scale ◽  
Copy Number Variants ◽  
Whole Genome
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