Finally, Eng described new genomics advances
including whole genome sequencing for potential clinical application with its opportunity for changing the paradigm of healthcare and its multiple attendant challenges.
This research is important in demonstrating the crucial role that techniques
including whole genome sequencing, and whole genome multi-locus sequence typing play in enabling a detailed retrospective study of outbreak and non-outbreak strains of the pathogen.
The Family - Based study
includes whole genome sequencing (WGS) on multiplex families where DNA for at least two members per family was available and includes Caucasians and Caribbean Hispanic families.
Not exact matches
However, the results of more recent phylogenetic analyses, derived from comparisons between
sequences of specific genes and of
whole genomes, seemed to point to Ctenophora as the first group that parted company with the lineage from which the rest of the animal kingdom (
including sponges) evolved.
Gire et al. describe Ebola epidemiology on the basis of 99
whole -
genome sequences,
including samples from 78 affected individuals.
Two study aims were to use novel
whole -
genome sequence data to (1) study possible correlations between language groups and genetic clustering, and (2) investigate the ancestral compositions of these individuals,
including maternal and paternal lineages.
Therefore,
whole genome sequencing was performed on a total of 76 patient isolates,
including up to two repeat isolates from patients who tested positive for MRSA in the first screen.
Future additions to the RM collection may
include whole genomes from persons with Hispanic, African and mixed ancestries, as well as a set containing
sequenced genes of both malignant tumor and normal cells from the same individual.
The TrueMethyl
Whole Genome (TMWG) integrated workflow system for processing DNA samples
includes all - in - one reagents for sample conversion, library creation, and indexing, combined with bioinformatics tools to enable accurate DNA modification analysis through next - generation
sequencing methods.
Dr. Shendure: Of course the future of genetics
includes sequencing millions or perhaps billions of
whole genomes but I ll be disappointed if generating and sifting through that data is all our field is capable of.
The most significant of these was the HiSeq X Ten, a 10 - instrument «factory installation» that enabled the most cost - effective human
whole genome sequencing to date: 18,000
genomes per year at a consumables cost of just over $ 1,000 each (note: this does not
include the costs of data storage, analysis, or the $ 10 million buy - in).
I will review recent advances in the use of nanopore
sequencing for clinical microbiology and human genetics,
including our collaborations on viral and bacterial diagnostic
sequencing, real - time surveillance, direct RNA and human
whole -
genome sequencing, and discuss the opportunities and barriers around moving to
sequencing as a routine test in the clinic.
We expanded on our
genome sequencing efforts to
include efforts in
whole genome gene expression analysis and functional analysis of
genome variation.
These technologies
include next generation exome and
whole -
genome sequencing, ChiP -
sequencing, tissue transcriptome and epitope profiling, and miRNome, proteome and metabolome screening in different body fluids.
Next generation
sequencing was to
include whole exome
sequencing (WES) and
whole genome sequencing (WGS) and analysis on large numbers of well characterized subjects to identify AD risk and protective gene variants.
Next generation
sequencing includes whole exome
sequencing (WES) and
whole genome sequencing (WGS) and analysis on large numbers of well characterized subjects to identify AD risk and protective gene variants
We have generated rich genomic datasets for the scientific community,
including an expansive atlas of genetic associations with metabolites,
whole -
genome sequence and phenotype data for population cohorts in the UK10K project, as well as bioinformatic resources to facilitate the retrieval of information,
including a metabolite network, a database of genotype - metabolite associations with our colleagues at the HelmHoltz institute, and a
genome browser of UK10K association results.
Ongoing T2D research activities at CRGGH
include 1)
whole - exome
sequencing of African families with at least four affected members (data generation is complete and analysis is ongoing), 2) GWAS of 1,200 cases and 1,200 controls from West Africa using the new and more efficient African - centric Affymetrix Axiom
genome - wide array with more than 2 million markers, and 3)
whole genome expression analysis on skeletal muscle obtained from biopsy from 45 subjects (expression QTL (eQTL) studies on the dataset are complete).
The study utilized SNP data from several sources
including Illumina SNP chip genotyping as well as
whole -
genome sequencing of 7 Icelanders with SSS and 80 Icelanders not diagnosed with SSS.
An extensive analysis of the
whole -
genome,
including annotation of predicted genes and assignment of functional categories, analysis of chromosomal architecture and the distribution of transposable elements, and comparisons with other
genomes, is presented with the publication of the
sequences of chromosomes 1, 3, and 5.
Of course,
whole genome sequences include an individual's complete STR profile.
REYKJAVIK, Iceland, 20 September 2017 — In a major study published today, researchers at deCODE genetics use
whole -
genome data from 14,000 people from across the population of Iceland,
including 1500 sets of parents and children, to provide the most detailed portrait to date of how
sequence diversity in humans is the result of an evolving interaction between sex, age, mutation type and location in the
genome.
Scientific contributions
include publication of the first randomized trials to assess the impact of common complex genetic risk markers, empirically measuring the outcomes of DTC genetic testing, design of a variant classification pipeline and single page summary for reporting clinical results of
whole genome sequencing.
Re-analysis costs are not
included in the price for
whole genome sequencing through the
We significantly extended earlier comparative studies by
including all presently available
whole genome sequencing platforms and by using four different samples to shed light on the sample - to - sample variation in
sequencing performance.
We also generated a large set of
sequence data
including the
whole transcriptomes of ~ 100 species as well as a couple of
genomes.