Rapid methodological advances in statistical and computational genomics have enabled researchers to better identify and interpret both rare and common variants responsible for complex human diseases. As we continue to see an expansion of these advances in the field, it is now imperative for researchers to understand the resources and methodologies available for various data types and study designs. In this review, we provide an overview of recent methods for identifying rare and common variants and understanding their roles in disease etiology. Additionally, we discuss the strategy, challenge, and promise of gene therapy. As computational and statistical approaches continue to improve, we will have an opportunity to translate human genetic ...
The majority of GWAS (Genome-Wide Association Study) identified common genetic variants map to regul...
The fast development of sequencing technologies has enabled rapid and large-scale sequencing of huma...
Collectively, rare genetic disorders affect a substantial portion of the world's population. In most...
Rapid methodological advances in statistical and computational genomics have enabled researchers to ...
Precision medicine programs to identify clinically relevant genetic variation have been revolutioniz...
All human beings are approximately 99.9% similar in their DNA sequences. The 0.1% contains different...
New sequencing technology has enabled the identification of thousands of single nucleotide polymorph...
The identification and characterisation of genomic changes (variants) that can lead to human disease...
Advances in DNA sequencing technology have resulted in the ability to generate genetic data at costs...
The advent of genotyping and sequencing technologies has enabled human genetics to discover numerous...
In recent years, next-generation sequencing (NGS) platforms that facilitate generation of a vast amo...
PURPOSE: Genomic sequencing has become an increasingly powerful and relevant tool to be leveraged fo...
abstract: Rapid advancements in genomic technologies have increased our understanding of rare human ...
Genome sequencing is enabling precision medicine-tailoring treatment to the unique constellation of ...
Recent breakthroughs in next-generation sequencing technologies allow cost-effective methods for mea...
The majority of GWAS (Genome-Wide Association Study) identified common genetic variants map to regul...
The fast development of sequencing technologies has enabled rapid and large-scale sequencing of huma...
Collectively, rare genetic disorders affect a substantial portion of the world's population. In most...
Rapid methodological advances in statistical and computational genomics have enabled researchers to ...
Precision medicine programs to identify clinically relevant genetic variation have been revolutioniz...
All human beings are approximately 99.9% similar in their DNA sequences. The 0.1% contains different...
New sequencing technology has enabled the identification of thousands of single nucleotide polymorph...
The identification and characterisation of genomic changes (variants) that can lead to human disease...
Advances in DNA sequencing technology have resulted in the ability to generate genetic data at costs...
The advent of genotyping and sequencing technologies has enabled human genetics to discover numerous...
In recent years, next-generation sequencing (NGS) platforms that facilitate generation of a vast amo...
PURPOSE: Genomic sequencing has become an increasingly powerful and relevant tool to be leveraged fo...
abstract: Rapid advancements in genomic technologies have increased our understanding of rare human ...
Genome sequencing is enabling precision medicine-tailoring treatment to the unique constellation of ...
Recent breakthroughs in next-generation sequencing technologies allow cost-effective methods for mea...
The majority of GWAS (Genome-Wide Association Study) identified common genetic variants map to regul...
The fast development of sequencing technologies has enabled rapid and large-scale sequencing of huma...
Collectively, rare genetic disorders affect a substantial portion of the world's population. In most...