We provide consultation on study design and sample size calculation for array or deep - sequencing -
based genomics studies.
Not exact matches
But it has been disappointing in that the kind of genetic variation it detects has turned out to explain surprisingly little of the genetic links to most diseases... One issue of debate among researchers is whether, despite the prospect of diminishing returns, to continue with the genomewide
studies, which cost many millions of dollars apiece, or switch to a new approach like decoding the entire genomes of individual patients.The unexpected impasse also affects companies that offer personal
genomic information and that had assumed they could inform customers of their genetic risk for common diseases,
based on researchers» discoveries...
«The
study results elucidate the molecular mechanisms underlying disease progression in multiple sclerosis models, providing a
basis for future clinical trials to determine safety and efficacy of these chemical agents in humans with demyelinating disorders,» says Patrizia Casaccia, MD, PhD, Professor of Neuroscience, Genetics and
Genomic Sciences at Mount Sinai and senior author of the
study.
The researchers analyzed
genomic data with computational tool,
based on cutting - edge computational methods, and designed by the Gabaldón group, to
study the yeast family tree.
These
genomic variations have been revealed by
studies in the population and by analysis of the genomes of colon cancer patients that are available in data
bases such as that of the 1000 Genomes Project Data.
Burke, whose lab
studies the
genomic basis of evolutionary divergence within the sunflower family, was involved in the genetic mapping upon which the genome assembly was
based and oversaw the whole genome re-sequencing of the 80 sunflower lines described in the paper.
The
study was
based on
genomic and metabolomics data obtained from blood samples of 24 individuals.
In the proof - of - principle
study, Courchesne, first author Tiziano Pramparo, PhD, and colleagues identified blood -
based genomic biomarkers that differentiated toddlers with ASD, ranging in age from one to four years old, from a control group of toddlers without ASD.
Senior toxicologists say the field of toxicology is undergoing a big change as pressure mounts to reduce animal use and
genomics, proteomics, and other cell -
based and molecular techniques supersede whole - animal
studies.
Our
study is the first to understand whether some individuals are at higher or lower risk
based on their
genomic profile.
Zeggini then did a 1 - year postdoc at Manchester's Centre for Integrated
Genomic Medical Research, where she honed her skills in statistics and started developing computer -
based strategies to analyse data from complex, multigene
studies.
The cancer moonshot has begun to change that, he said, citing NCI's cloud -
based Genomic Data Commons, a data repository meant to encourage researchers on different studies to share cancer genomic data to advance precision me
Genomic Data Commons, a data repository meant to encourage researchers on different
studies to share cancer
genomic data to advance precision me
genomic data to advance precision medicine.
For example, we are continuing to generate the
base of evidence needed to empower science
based control of the spread of rabies within vampire bats in Latin America, but also exploring fundamental questions about cross-species transmission and the role of host and pathogen
genomics in
studying disease ecology».
The researchers integrated these data with results from a prior Psychiatric
Genomic Consortium genome - wide - association
study,
based on clinician - vetted diagnoses of more than 20,000 patients and controls of European ancestry.
These
studies provide the
basis for a critical assessment of the views of the general public and physicians on genetics and genetic testing services in several European countries, while these surveys could be readily replicated in other countries in Europe with the ultimate aim of improving the public understanding of genetics and genetic testing, and facilitating the incorporation of
genomic medicine into everyday clinical practice.
Ageing research and more generally the
study of the functional
basis of human diseases profit enormously from the large - scale approaches and resources in mouse functional
genomics: systematic targeted mutation of the mouse genome, systemic phenotyping in mouse clinics, and the archiving and distribution of the mouse resources in public repositories.
In particular, I have initiated a team approach that is identifying and
studying recurrent, treatment - refractory cancers in our clinics using these approaches as a component of evidence -
based diagnostic medicine, seeking to better understand the
genomic drivers in these cancers and to identify novel treatment approaches that target them, in hopes of obtaining durable responses.
«PTEN is a
genomic marker we already routinely measure, and
based on published data we wanted to know if we could use it to predict which BRCA1 / 2 mutated tumors are likely to respond to checkpoint inhibitors and which are not,» said the
study's senior author
The Kind group
studies the regulation of gene expression in single cells by developing and using novel microscopy and
genomics based techniques.
«PTEN is a
genomic marker we already routinely measure, and
based on published data we wanted to know if we could use it to predict which BRCA1 / 2 mutated tumors are likely to respond to checkpoint inhibitors and which are not,» said the
study's senior author Katherine L. Nathanson, MD, deputy director of the Abramson Cancer Center and director of Genetics at the Basser Center for BRCA.
In this first family -
based CNV
study of left - sided CHD, we found that both co-segregating and de novo events contribute to disease in a complex fashion at the structural
genomic level.
To uncover molecular processes in individual cells and to understand the full complexity of biological systems, our lab applies and develops novel microscopy and
genomics based techniques to
study the regulation of gene - expression in single cells.
Laboratory activities minimally include performing a lab -
based patient - oriented research project applicable to cancer
genomics, with an emphasis on mastering techniques commonly used within a human genetics laboratory, such as PCR, gene sequencing, mutation analysis, western blots, and functional protein
studies.
In a previous
study, we showed that
genomic rearrangements of up to one million
base pairs can be generated by direct injection of CRISPR / Cas9 reagents into mouse zygotes.
Recent advances in the scale and diversity of population
genomic datasets for bacteria now provide the potential for genome - wide patterns of co-evolution to be
studied at the resolution of individual
bases.
This centre has been devised as a space for excellence research in
genomic medicine, focussing on the comprehensive
study and understanding of the genetic
basis of human diseases in general, placing special emphasis on cancer and its genetic disorders related to inheritance.
We did not associate runs of homozygosity in English bulldogs with characteristic phenotypic traits but are confident
based on previous
studies that the greater
genomic variation in English bulldogs compared to Standard Poodles reflected stronger human - directed selection in the former breed than in the latter.
«I believe a tremendous opportunity exists to use genetics and
genomics to develop new ways to diagnose, treat and prevent equine disease,» says Schultz, a Fellow who plans to
study the molecular
basis of equine genetic disease and
genomic influences on complex diseases at the University of Minnesota.
Tags for this Online Resume: Lentiviral Retroviral shRNA RNA knockdown screens, Flow Cytometry, RTPCR, Immunopreciptations, Reporter assays, Cell
based Assays, ELISA, Migration, Stable and Transient Transfections,
Genomic and Proteomic
Studies, Cloning, Transient siRNA knockdowns, Phenotyping Mammalian cell lines, Gene Overexpression, Subcloning to expression Vectors, Construct Stable Inducible Cell lines, Protein Kinase Assay, Pulse Chase Experiments, Transfection, Transduction, Transformation, Polyoma virus DNA tumor virus replication, Research Scientist, Cell Biology Protein Biochemistry Genetics Molecular Bioliogy Oncology Virology, FACS