Tag: sequencing

Filling in the genetic gaps in the phylogenetic tree of nearby human species! 

Filling in the genetic gaps in the phylogenetic tree of nearby human species! 

#paper   #sequencing   #genome    #denisovans   #neanderthaler  

Reshared post from +Nature News & Comment

A new high-coverage DNA sequencing method reconstructs the full genome of Denisovans — relatives to both Neandertals and humans — from genetic fragments in a single finger bone.

New DNA analysis shows ancient humans interbred with Denisovans
A new high-coverage DNA sequencing method reconstructs the full genome of Denisovans — relatives to both Neandertals and humans — from genetic fragments in a single finger bone.

Filling in the genetic gaps in the phylogenetic tree of nearby human species!

Filling in the genetic gaps in the phylogenetic tree of nearby human species!

#paper #sequencing #genome #denisovans #neanderthaler

Originally shared by +Nature News & Comment

A new high-coverage DNA sequencing method reconstructs the full genome of Denisovans — relatives to both Neandertals and humans — from genetic fragments in a single finger bone.

New DNA analysis shows ancient humans interbred with Denisovans
A new high-coverage DNA sequencing method reconstructs the full genome of Denisovans — relatives to both Neandertals and humans — from genetic fragments in a single finger bone.

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…

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…

How smart usage of sequencing can reduce the medical bill in rare disease cases

How smart usage of sequencing can reduce the medical bill in rare disease cases

They knew because of the death of an earlier child that this family had an elevated risk for SCID (in this case a mutation in the IL7R gene). By using sequencing at birth they could determine that the baby had the same disease and within 24h the correct treatment was picked and within 16 days applied.

Not only did this save the baby's life it also saved lots of money:
'Kendra's total medical bill was US$12,000 — compared with $500,000 for her brother. And she is doing well today.'

From the article:
'“This is what genomic medicine is supposed to do,” Strauss says. “If you know which people are at risk, you can determine a diagnosis before a child is 24 hours old. You can come up with a treatment based on the genetics.”'

http://goo.gl/hNUDk

#personalgenomics #sequencing #raredisease

Embedded Link

Rare diseases: Genomics, plain and simple : Nature News & Comment

Rare diseases: Genomics, plain and simple : Nature News & Comment
A Pennsylvania clinic working with Amish and Mennonite communities could be a model for personalized medicine.

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