Tag: genomics

The economic case for clinical genomics

The economic case for clinical genomics

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.

Want to understand what this ENCODE thing is all about? Watch this amazing animated…

Want to understand what this ENCODE thing is all about? Watch this amazing animated…

Want to understand what this ENCODE thing is all about? Watch this amazing animated movie very elegantly explaining the basics of what makes this project so exciting and what the implications are on a level that even non scientist understand! Brilliantly done +Nature Publishing Group

Genomes Certainly Are Tricky!

Thanks +Benedetta Frida Baldi for this great find!  

#ENCODE   #science   #genomics   #genetics   #epigenetics  

The Story of You: ENCODE and the human genome
Ever since a monk called Mendel started breeding pea plants we’ve been learning about our genomes. In 1953, Watson, Crick and Franklin described the structur…

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…

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.

I think for a paper like this it would be more interesting to see if the amount of mutations with a functional effect (coding or regulatory) is also increasing with age and with what rate this is happening.

I think for a paper like this it would be more interesting to see if the amount of mutations with a functional effect (coding or regulatory) is also increasing with age and with what rate this is happening.

Another great thing would be if they would actually sequence the same person with samples from each a different age and see the actual changes instead of the inferred mutations.

Paper: http://www.nature.com/nature/journal/v488/n7412/full/nature11396.html#/affil-auth
#paper
#genomics #genetics #sequencing #evolution

Originally shared by +Lorna Salgado

"Men in their 20s harbor about 25 random mutations, while a 40-year-old man has 65 mutations on average."

Scientists have found solid evidence that older men have more random mutations in their sperm cells. They're warning that can cause autism, schizophrenia and a long list of other genetic diseases in their offspring.

The new report, in the journal Nature, comes from deCODE Genetics, an Icelandic firm that studied the entire genomes of 78 families involving 219 individuals.

It's not the first time researchers have suggested the father's age is linked to increased genetic risk. The hypothesis goes back nearly a century. But the Icelandic researchers have shown that the father's contribution to genetic disorders is far higher than the mother's.

It makes sense. Men churn out around 200 million sperm a day, providing 200 million daily opportunities for spontaneous "point" mutations when genes get mis-copied. But once women reach puberty, they don't make new egg cells, so their rate of mutations – usually errors in chromosomes, or whole groups of genes – is fixed.

And sure enough, the new paper shows that the rate of new mutations rises steadily in men's germ cells – doubling every 16 1/2 years. Men in their 20s harbor about 25 random mutations, while a 40-year-old man has 65 mutations on average.

Kids Of Older Fathers Likelier To Have Genetic Ailments : NPR
Icelandic scientists have found solid evidence that older men have more random mutations in their sperm cells. They’re warning that can cause autism, schizophrenia and a long list of other genetic dis…

I think for a paper like this it would be more interesting to see if the amount of…

I think for a paper like this it would be more interesting to see if the amount of…

I think for a paper like this it would be more interesting to see if the amount of mutations with a functional effect (coding or regulatory) is also increasing with age and with what rate this is happening. 

Another great thing would be if they would actually sequence the same person with samples from each a different age and see the actual changes instead of the inferred mutations. 

Paper: http://www.nature.com/nature/journal/v488/n7412/full/nature11396.html#/affil-auth
#paper  
#genomics    #genetics   #sequencing   #evolution  

Reshared post from +Lorna Salgado

"Men in their 20s harbor about 25 random mutations, while a 40-year-old man has 65 mutations on average."

Scientists have found solid evidence that older men have more random mutations in their sperm cells. They're warning that can cause autism, schizophrenia and a long list of other genetic diseases in their offspring.

The new report, in the journal Nature, comes from deCODE Genetics, an Icelandic firm that studied the entire genomes of 78 families involving 219 individuals.

It's not the first time researchers have suggested the father's age is linked to increased genetic risk. The hypothesis goes back nearly a century. But the Icelandic researchers have shown that the father's contribution to genetic disorders is far higher than the mother's.
 
It makes sense. Men churn out around 200 million sperm a day, providing 200 million daily opportunities for spontaneous "point" mutations when genes get mis-copied. But once women reach puberty, they don't make new egg cells, so their rate of mutations – usually errors in chromosomes, or whole groups of genes – is fixed.

And sure enough, the new paper shows that the rate of new mutations rises steadily in men's germ cells – doubling every 16 1/2 years. Men in their 20s harbor about 25 random mutations, while a 40-year-old man has 65 mutations on average.

Embedded Link

Kids Of Older Fathers Likelier To Have Genetic Ailments : NPR
Icelandic scientists have found solid evidence that older men have more random mutations in their sperm cells. They’re warning that can cause autism, schizophrenia and a long list of other genetic dis…