In the post genome era, a major goal of biology is the identification of specific roles for individual genes. We report a new genomic tool for gene characterization, the UCLA Gene Expression Tool (UGET).. In addition, we retrospectively tested UGET and other gene expression based prioritization tools to identify disease-causing genes within known linkage intervals. We first demonstrated this utility with UGET using genetically heterogeneous disorders such as Joubert syndrome, microcephaly, neuropsychiatric disorders and type 2 limb girdle muscular dystrophy (LGMD2) and then compared UGET to other gene expression based prioritization programs which use small but discrete and well annotated datasets. Finally, we observed a significantly highe...
The diagnostic yield of exome and genome sequencing remains low (8-70%), due to incomplete knowledge...
Contains fulltext : 33210.pdf (publisher's version ) (Open Access)Disease gene ide...
The development of gene expression profiling technology has enabled the high-throughput discovery of...
In the post genome era, a major goal of biology is the identification of specific roles for individu...
In the post genome era, a major goal of biology is the identification of specific roles for individu...
BACKGROUND: Despite the large increase of transcriptomic studies that look for gene signatures on di...
Many diseases have complex genetic causes, where a set of alleles can affect the propensity of getti...
Many diseases have complex genetic causes, where a set of alleles can affect the propensity of getti...
Finding disease gene-markers is nowadays one of the main focuses of molecular medicine. However, to ...
Background: Pinpointing genes involved in inherited human diseases remains a great challenge in the ...
A new generation of non-Sanger-based sequencing technologies, so called “next-generation” sequencing...
BACKGROUND: Complex diseases are associated with altered interactions between thousands of genes. We...
BACKGROUND: Complex diseases are associated with altered interactions between thousands of genes. We...
BACKGROUND: Complex diseases are associated with altered interactions between thousands of genes. We...
The diagnostic yield of exome and genome sequencing remains low (8-70%), due to incomplete knowledge...
The diagnostic yield of exome and genome sequencing remains low (8-70%), due to incomplete knowledge...
Contains fulltext : 33210.pdf (publisher's version ) (Open Access)Disease gene ide...
The development of gene expression profiling technology has enabled the high-throughput discovery of...
In the post genome era, a major goal of biology is the identification of specific roles for individu...
In the post genome era, a major goal of biology is the identification of specific roles for individu...
BACKGROUND: Despite the large increase of transcriptomic studies that look for gene signatures on di...
Many diseases have complex genetic causes, where a set of alleles can affect the propensity of getti...
Many diseases have complex genetic causes, where a set of alleles can affect the propensity of getti...
Finding disease gene-markers is nowadays one of the main focuses of molecular medicine. However, to ...
Background: Pinpointing genes involved in inherited human diseases remains a great challenge in the ...
A new generation of non-Sanger-based sequencing technologies, so called “next-generation” sequencing...
BACKGROUND: Complex diseases are associated with altered interactions between thousands of genes. We...
BACKGROUND: Complex diseases are associated with altered interactions between thousands of genes. We...
BACKGROUND: Complex diseases are associated with altered interactions between thousands of genes. We...
The diagnostic yield of exome and genome sequencing remains low (8-70%), due to incomplete knowledge...
The diagnostic yield of exome and genome sequencing remains low (8-70%), due to incomplete knowledge...
Contains fulltext : 33210.pdf (publisher's version ) (Open Access)Disease gene ide...
The development of gene expression profiling technology has enabled the high-throughput discovery of...