Tag: paper

The economic case for clinical genomics

The economic case for clinical genomics

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A great systematic review by Schwarze et.al. in Genetics in Medicine on the cost benefits of Whole Genome Sequencing (WGS) and Whole Exome Sequencing (WES) in the clinical settings.

Main findings that interested me:

  • Doing molecular testing (using single-gene, panel testing, or microarrays) for genetic disorders only results in 50% molecular diagnosis. Many patients will still be going on extensive diagnostic testing to diagnose patients that is both slow and expensive.
  • Although the raw costs of sequencing are dropping in the clinical genetics setting the costs of both WGS and WES are stable and don’t decrease.
  • Diagnostic yield between WES and WGS varies a-lot. With for WES ranging 3 ~ 79% and for WGS 17 ~ 73%. Authors do note that in many of these cases in these studies the patients were hard to diagnose traditionally.

Study shows how CTCF binding can be influenced by quantitative trait loci (Hooray, my first-author paper is out!)

Study shows how CTCF binding can be influenced by quantitative trait loci (Hooray, my first-author paper is out!)

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Furthermore, we show novel distinctive binding patterns for males and females on the X-chromosome that is not exclusively for the inactivation pathway.

Read the full paper ( #openaccess & #opendata ) at:
http://www.plosgenetics.org/article/info%3Adoi%2F10.1371%2Fjournal.pgen.1004798

#science #paper #CTCF #biology #molecularbiology #scienceeveryday

  

In Album 2014-11-20

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Skulls of early Homo erectus from the site of Dmanisi, Georgia, are all quite different

Skulls of early Homo erectus from the site of Dmanisi, Georgia, are all quite different

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"Together with the fossilized bones of four additional individuals discovered in close proximity, the skulls indicates that populations of early Homo comprised a wider range of morphological variation than traditionally assumed, which implies a single evolving lineage with continuity across continents. "

So who knows, maybe H rudolfensis, H gautengensis, H ergaster and possibly H habilis are all H erectus! If true this would be a game changer as it could indicate that our predecessors at a specific time and place are way less similar to each other than was expected until now.

Read both papers in Science:

http://www.sciencemag.org/content/342/6156/297.short
http://www.sciencemag.org/content/342/6156/326.short

#science #paper #homosapiens #evolution #homoerectus #Dmanisi #palaeontology

 
Population study in Italy suggests that though old age increase rate of #Alzheimer and #Cancer it is very rare that a given person has both cancer as well alzheimer.

Population study in Italy suggests that though old age increase rate of #Alzheimer and #Cancer it is very rare that a given person has both cancer as well alzheimer.

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I can somehow understand how cancer kills before alzheimer sets in but it's striking that old people with alzheimer seem to be "cancer free".

Anyone any biological take on this?

#science #paper #populationstudy



Inverse occurrence of cancer and Alzheimer disease
Abstract Objective: To evaluate the incidence of cancer in persons with Alzheimer disease (AD) and the incidence of AD dementia in persons with cancer. Methods: This was a cohort study in Northern Italy on more than 1 million residents. Cancer incidence was derived from the local health authority (ASL-Mi1) tumor registry and AD dementia incidence from registries of drug prescriptions, hospitalizations, and payment exemptions. Expected cases o…

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Population study in Italy suggests that though old age increase rate of #Alzheimer…

Population study in Italy suggests that though old age increase rate of #Alzheimer…

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Population study in Italy suggests that though old age increase rate of #Alzheimer and #Cancer it is very rare that a given person has both cancer as well alzheimer. 

I can somehow understand how cancer kills before alzheimer sets in but it's striking that old people with alzheimer seem to be "cancer free". 

Anyone any biological take on this?

#science   #paper   #populationstudy  

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Inverse occurrence of cancer and Alzheimer disease
Abstract Objective: To evaluate the incidence of cancer in persons with Alzheimer disease (AD) and the incidence of AD dementia in persons with cancer. Methods: This was a cohort study in Northern Italy on more than 1 million residents. Cancer incidence was derived from the local health authority (ASL-Mi1) tumor registry and AD dementia incidence from registries of drug prescriptions, hospitalizations, and payment exemptions. Expected cases o…

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There is it is, the term "Junk DNA" can now finally go in the bin as the…

There is it is, the term "Junk DNA" can now finally go in the bin as the…

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There is it is, the term "Junk DNA" can now finally go in the bin as the ENCODE project clearly identifies that almost all the genome locations that are non-coding are active on the regulatory level. This massive amount of data (published not only in the main paper but also in several accompany papers and a ENCODE app!) increase our knowledge of the Human genome and molecular mechanisms in general. 

Exciting to work in the lab of the main leading PI of this project and to see so many familiar names on all these papers. Congrats to all! 

#paper   #ENCODE       #genomics   #chromatin   #regulation   #junkdna  

Nature ENCODE : Nature Publishing Group : A landmark in the understanding of the human genome
Nature ENCODE: Explore the wealth of information about the project’s key findings and numerous integrative analyses.

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