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Advances in genetic analysis have greatly expanded the capabilities of cytogenetics research in recent years. This has led to the emergence of high-resolution, genome-wide methods for chromosomal disorder analysis, namely chromosomal microarray analysis, genome sequencing, and exome sequencing. These technologies have paved the path for genetic research for various applications within reproductive health, oncology, and predictive genomics studies at the population scale to detect genetic risk factors efficiently.
Microarray analysis has significantly altered the predictive power of genetics in clinical research. Over the years, microarray analysis has been evolving continually, so not all arrays perform the same. Single-nucleotide polymorphism (SNP) arrays can have significant advantages over other array types in clinical research, as many congenital disorders are caused by SNPs.
Most advanced arrays used for clinical research purposes are hybrid-SNP arrays, containing a combination of a large number of SNP and CNV probes. The selection, size, placement, and spacing of these probes along the genome can have a big impact on performance. Therefore, high-density hybrid-SNP arrays can be used to detect chromosomal anomalies that a CGH would miss.
Clinical researchers utilize genome-wide microarray testing for direct genotyping of hundreds of thousands of variants per sample at highly scalable cost and throughput. Millions of additional genotypes can be imputed from genome-wide array data. Direct genotypes are highly accurate, enabling calling of rare variants and critical biomarkers. Furthermore, microarrays allow for consistent and simplified data interpretation and reporting.
White Paper: The A to Z of microarrays—evolution of a revolutionary solution
This whitepaper discusses how microarrays have been instrumental in human genomic analysis, advancements in microarray tecnology that increase efficiency and the types of research applications that utilize microarrays.
White Paper: Constitutional genetic testing—chromosomal microarrays or exome sequencing?
This whitepaper provides an overview of various genome-wide methods for chromosomal disorder analysis, the current recommendations from professional societies, and operational and technical factors one should consider when implementing a technology for clinical research studies.
White Paper: Navigating the technology landscape for population-scale predictive genomics
This white paper scrutinizes the complementary capabilities of whole-genome sequencing (WGS), low-pass sequencing (LPS), genome-wide microarrays, and explores strategies for disease risk and drug response research.
White Paper: Microarrays—an important tool for predictive genomics
This whitepaper discusses how microarrays have been instrumental in human genomic analyses, how microarrays benefit population research, and how they are used for pharmacogenomics.
For Research Use Only. Not for use in diagnostic procedures.