Role Of Genome Sequencing Research Articles

The Role of Genome Sequencing in Neonatal Intensive Care Units.

Genetic diseases disrupt the functionality of an infant's genome during fetal-neonatal adaptation and represent a leading cause of neonatal and infant mortality in the United States. Due to disease acuity, gene locus and allelic heterogeneity, and overlapping and diverse clinical phenotypes, diagnostic genome sequencing in neonatal intensive care units has required the development of methods to shorten turnaround times and improve genomic interpretation. From 2012 to 2021, 31 clinical studies documented the diagnostic and clinical utility of first-tier rapid or ultrarapid whole-genome sequencing through cost-effective identification of pathogenic genomic variants that change medical management, suggest new therapeutic strategies, and refine prognoses. Genomic diagnosis also permits prediction of reproductive recurrence risk for parents and surviving probands. Using implementation science and quality improvement, deployment of a genomic learning healthcare system will contribute to a reduction of neonatal and infant mortality through the integration of genome sequencing into best-practice neonatal intensive care.

EP400: Utility of genome sequencing in CNV identification in an immune disorders cohort

Chromosomal microarray (CMA) enables the detection of copy number changes within exon or gene-level resolution depending on probe density and gene coverage. Genome sequencing (GS) can circumvent these resolution issues through detection of smaller copy number changes enabled by uniformity of coverage that is not possible by exome sequencing (ES). Copy number variants (CNVs) can add to the diagnostic yield of inborn errors of immunity (IEI); however, the role of genome sequencing in identifying CNVs in IEI is not well understood.

The role of genome sequencing in phytoplasma research

Despite their agricultural importance and unique features, phytoplasmas remain one of the most poorly characterized plant pathogen. To date, more than several hundred phytoplasma strains have been reported worldwide, and these strains have been classified mainly in ‘Candidatus phytoplasma'species based on 16S rRNA gene variability. This review focuses on the role and impact of genome sequencing in phytoplasma research, including both complete and draft sequencing projects. Genome sequencing projects strengthened the understanding of phytoplasma biology, and the information by genome sequences promoted several researches, some of those are summarized in this review.

The Role of Genome Sequencing in the Identification of Novel Therapeutic Targets

Remarkable technological innovations have emerged in recent years allowing for rapid and cost-effective whole genome direct sequencing. This generation of massive amounts of genomic data was made with the assumption that the better understanding of the Genomics would aid in the identification of new causes for genetic disorders, as well as discovering new therapeutic targets. Due to this assumption, many genomes from different organisms, including humans, have been sequenced, resulting in an immense amount of genetic data. However, in order to best use this data, a similar expansion in our ability to process and analyze the data on a large scale will be necessary. The present review focuses on the impact of genome sequencing projects on the identification of novel genes and proteins, with a special focus on the role of sequencing pathogenic genomes in potential drug development.

QnAs with Eric S. Lander

This year marks the 10th anniversary of the sequencing of the human genome. More than two decades after the launch of the Human Genome Project, researchers have made remarkable inroads into unraveling human biology, evolution, and disease. As the tools of genome sequencing and analysis grow more sophisticated, insights into the human genome will slowly shift the terrain in the treatment of disease. To be sure, the shift has already begun. Eric Lander, founding director of the Broad Institute of Harvard and Massachusetts Institute of Technology and a member of the National Academy of Sciences, offers PNAS readers his perspectives on the role of genome sequencing in the transformation of medicine. Eric S. Lander. > PNAS:The cost of genome sequencing has plummeted since the start of the Human Genome Project. In 1990, sequencing a single genome cost an estimated 3 billion dollars. Now, researchers envision $1,000 genomes within the next five years. What has led to the drop in cost? > Lander:Two factors have contributed to lowering the cost of genome sequencing. The first is what can be called economic pump priming. Back in the 1950s, the Department of Defense signaled to industry that it would be a major customer for semiconductors; this jumpstarted the market, calling forth private investment that improved …

Chromatin 'programming' by sequence - is there more to the nucleosome code than %GC?

The role of genomic sequence in directing the packaging of eukaryotic genomes into chromatin has been the subject of considerable recent debate. A new paper from Tillo and Hughes shows that the intrinsic thermodynamic preference of a given sequence in the yeast genome for the histone octamer can largely be captured with a simple model, and in fact is mostly explained by %GC. Thus, the rules for predicting nucleosome occupancy from genomic sequence are much less complicated than has been claimed.See research article http://www.biomedcentral.com/1471-2105/10/442