Results 321 to 330 of about 237,110 (353)

Exomes

2017
Plos One ...
openaire   +1 more source

Exome Sequencing by Targeted Enrichment

Current Protocols in Molecular Biology, 2013
AbstractThis unit describes methods for targeted enrichment of the exon‐coding portions of the genome using Agilent SureSelect Human All Exon 50 Mb and Roche Nimblegen SeqCap EZ Exome platforms. Each platform targets and enriches a large overlapping portion of the greater human exome.
Michael James, Clark, Rui, Chen, Michael, Snyder   +2 more
openaire   +2 more sources

Glossus humanus Exome

2013
We sequenced 5 Fanconi anaemia affecting families.
openaire   +1 more source

Homo sapiens Exome

2013
This study evaluated the performance of BGISEQ-500 on WES by comparison with Hiseq4000, on well-characterized human sample ...
openaire   +1 more source

HBV exome sequencing

2014
identify variants predisposing to chronic hepatitis B.
openaire   +1 more source

Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank

Nature Genetics, 2021
Joseph D Szustakowski, Suganthi Balasubramanian, Erika M Kvikstad   +2 more
exaly  

Exome Sequencing

2021
openaire   +1 more source

Whole-exome imputation within UK Biobank powers rare coding variant association and fine-mapping analyses

Nature Genetics, 2021
Alison R Barton, Maxwell A Sherman, Ronen E Mukamel   +2 more
exaly  

Exome sequencing and characterization of 49,960 individuals in the UK Biobank

Nature, 2020
Cristopher V Van Hout, Claudia Gonzaga-Jauregui, Alexander H Li   +2 more
exaly  

The role of exome sequencing in newborn screening for inborn errors of metabolism

Nature Medicine, 2020
Aashish N Adhikari, Renata C Gallagher, Yaqiong Wang   +2 more
exaly