The use
of genomic sequencing in healthy populations to screen for disease variants is conceptually very different from anything practiced today in medical genetics.
Population genetic analysis of shotgun assemblies
of genomic sequences from multiple individuals Hellmann, I., Y. Mang, Z. Gu, P. Li et al. 2008.
Topics at «Genetics — Moving to the Center of Healthcare» include the role of genomic testing in guiding cancer treatment, approaches to helping families that are coping with genetic diagnoses, and interpretation and
use of genomic sequencing results in the newborn population.
Helix performs a
type of Genomic Sequencing called «exome - plus» (Exome +) sequencing, which involves sequencing the part that codes for the proteins that tell your body how to function, or the «exome.»
The genes that make the toxin proteins sit within a complex that has embedded within it a type
of genomic sequence called a transposable element.
This dataset contains
millions of genomic sequences from a diverse set of rice varieties that, when combined with phenotyping observations, gene expression, and other information, provides an important step in establishing gene - trait associations, building predictive models, and applying these models to breeding.
The advent of accessible and relatively inexpensive high - throughput sequencing technology has resulted in extensive sequencing of whole human genomes or exomes in a research setting and seems likely to lead to an
explosion of genomic sequencing in a clinical context.
Biological
Annotation of the Genomic Sequence A key use of the sequence information from the canonical model organisms, such as Drosophila, will be to help interpret the sequence of the human genome.
For example, NIAID - supported researchers have completed hundreds
of genomic sequences of disease - causing organisms, including pathogens responsible for malaria, tuberculosis, chlamydia, and seasonal and pandemic influenza.
Ambry's scientists» research essentially suggests that clinical diagnostic companies offer a more clear picture of disease risk because they use a more comprehensive
kind of genomic sequencing technology.
«Harnessing the
power of genomic sequencing augments diagnosis and treatment of lymphoid cancer: New assay may allow screening for «actionable» gene mutations in routinely acquired archival biopsies, reports The Journal of Molecular Diagnostics.»
On the
basis of genomic sequence data we could argue that humans and our distant cousins, the fruit flies, are each more closely related to viruses than...
Related sites NHGRI's policy on
release of genomic sequence data National Human Genome Research Institute Celera Baylor College of Medicine
Since 23andMe began offering direct - to - consumer
marketing of genomic sequencing, over a dozen companies now offer various forms of genome sequencing and analysis.
The exact composition of germline V gene sequences in an individual has been difficult to determine due to the highly repetitive
nature of the genomic sequences encoding these segments, thus limiting our understanding of humoral immune responses.
Building the fourth generation of GATK (GATK4) on Cloudera Enterprise and utilizing the Spark distributed computing framework to speed research, the Broad Institute is facilitating better
understanding of genomic sequencing, resulting in faster data exploration and ultimately empowering better clinical decisions.
Jamal L, Sapp JC, Lewis K, Yanes T, Facio F, Biesecker LG, and Biesecker BB; Research participants» attitudes towards the
confidentiality of genomic sequence information; Eur J Hum Genet, November 27, 2013 (PMID: 24281371)
Some consider the
utilization of genomic sequencing in healthy individuals to be controversial; the short and long - term outcomes of providing genomic sequencing information to healthy adults are not known and are of great interest.
Rehm is also a co-investigator of the BabySeq Project exploring the clinical use
of genomic sequencing as an adjunct to newborn screening, principal investigator in the eMERGE consortium supporting genomic discovery and genomic medicine implementation, and a principal investigator on a project to develop i2b2 into a Health Innovation Platform for clinical decision support.
To maximize the
utility of genomic sequences for these purposes, it is essential that metadata about the pathogen / vector isolate characteristics be collected and made available in organized, clear, and consistent formats.
With the
speed of genomic sequencing increasing at the same time as a rapid drop in pricing, whole genome sequencing (WGS) is rapidly becoming a preferred clinical laboratory test.
The goal of the team's research was to demonstrate the
value of the genomic sequencing and comparison of mammals as a tool for annotating the human genome and the efficiency of a particular sequencing technique.
This dataset contains
millions of genomic sequences from a diverse set of rice varieties that, when combined with phenotyping observations, gene expression, and other information, provides an important step in establishing gene - trait associations, building predictive models, and applying these models to breeding.
To address that need, Sidhom used high - powered computing to create a mathematical model — essentially a digital map —
of genomic sequence data of receptors from human T - cells that were exposed to a virus in the laboratory.
The National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI) have committed $ 25 million over five years to four projects that will investigate the
use of genomic sequencing in newborns.
Without this approach, the results
of genomic sequencing would have been swamped with DNA from normal cells, making it difficult to detect cancer - linked DNA errors, Papp says.