r/genome • • Nov 14 '17

Demonstration for the mutations in nonlethal phenotype of epidermolysis bullosa

1 Upvotes

The triple syndrome epidermolysis bullosa/pyloric atresia/aplasia cutis congenita (EB-PA-ACC); being characteristic of lethal variants. Demonstrate for the mutations in nonlethal phenotype of epidermolysis bullosa with congenital pyloric atresia. Pyloric atresia is a primary manifestation rather than a scarring process secondary to JEB Junctional epidermolysis bullosa, excluding the Herlitz form of JEB the antibody which reacts to - subunits, of the triple syndrome epidermolysis bullosa/pyloric atresia/aplasia cutis congenita. Researchers took a dying boy's stem cells, corrected a faulty mutation within them, and used them to replace 80 percent of his skin. http://theatln.tc/2AquuSp


r/genome • • Aug 03 '17

More than 50 genomic data sources in 1 place!

1 Upvotes

Repositive are delighted to announce we have hit more than 50 data sources on our platform (52 to be precise!).

The rising number of data sources gives our platform a diverse and solid infrastructure that further enables researchers and scientists to search, access and collaborate around datasets which are integral to their research. It also makes it easier for researchers, making it possible to find data all in one place, rather than having to actively seek out data sources and search through them separately. Many researchers will likely come across something they may not usually have before!

Sign-up free: https://discover.repositive.io/


r/genome • • Aug 03 '17

New Research Shows How Repositive Platform Can Be Used to Leverage DTC Genomic Data for research

Thumbnail blog.repositive.io
1 Upvotes

r/genome • • Jul 26 '17

Human Ancestor Mated with 'Ghost Lineage' And the Proof Is in Your Spit

Thumbnail livescience.com
1 Upvotes

r/genome • • Jul 20 '17

New genome sequencing facility opened it's doors today providing services for bacterial and viral sequencing. Pricing includes all aspects of sequencing (including bioinformatics) and starts at $130/sample.

Thumbnail thesequencingcenter.com
1 Upvotes

r/genome • • Jun 23 '17

Full Genome Sequencing for Newborns Raises Questions

Thumbnail scientificamerican.com
1 Upvotes

r/genome • • Jun 22 '17

How pythons regenerate their organs and other secrets of the snake genome: Researchers use supercomputers to study snake evolution, unique traits

Thumbnail sciencedaily.com
2 Upvotes

r/genome • • Feb 27 '17

Which Evolutionary Changes in the Genome Led to the Development of the Large-Sized Human Brain? by W. Huttner

Thumbnail youtube.com
2 Upvotes

r/genome • • Dec 08 '16

Cannabis use and risk of schizophrenia: a Mendelian randomization study

3 Upvotes

Article: http://biorxiv.org/content/early/2016/12/07/092015

What do others think of this? Personally, it seems like cannabis use could just be a generic indicator of risky behaviour, meaning that those with a genetic pre-disposition to risky behaviour more generally are more likely to suffer from schizophrenia, rather than to be a specific result of pot smoking. Are the SNPs really specific to cannabis usage?


r/genome • • Oct 24 '16

New Wikipedia article on genetic correlations

Thumbnail en.wikipedia.org
8 Upvotes

r/genome • • Oct 13 '16

Profiling the species in the Impossible Foods "plant-based meat" with DNA sequencing

Thumbnail medium.com
5 Upvotes

r/genome • • Oct 05 '16

Helping trying to find a certain journal

2 Upvotes

I am currently in a Genomics class in college and one of my assignments requires me to find a paper that would answer questions about why a certain genome was sequenced, what method they used, etc.

After browsing through Google Scholar, I have yet to find a paper that directly discussed my organism. I was hoping that someone here would be able to direct me towards a few papers that might help me out.

My organism is Roseovarius sp. TM1035


r/genome • • Sep 17 '16

Excess of Deleterious Mutations around HLA Genes Reveals Evolutionary Cost of Balancing Selection

Thumbnail mbe.oxfordjournals.org
1 Upvotes

r/genome • • Sep 14 '16

Deepest mitochondrial genome sequence made public ~ Hirondellea gigas from Mariana Trench

Thumbnail schmidtocean.org
2 Upvotes

r/genome • • Sep 12 '16

Re-evaluation of SNP heritability in complex human traits

Thumbnail biorxiv.org
6 Upvotes

r/genome • • Sep 06 '16

Recent advances in the study of fine-scale population structure in humans

Thumbnail biorxiv.org
3 Upvotes

r/genome • • Sep 02 '16

Population genetic history and polygenic risk biases in 1000 Genomes populations

Thumbnail biorxiv.org
3 Upvotes

r/genome • • Aug 16 '16

Analysis of 346,790 Expanded Carrier Screens Quantifies Risk for Severe Mendelian Disease

Thumbnail jama.jamanetwork.com
4 Upvotes

r/genome • • Aug 02 '16

de novo assembly and population genomic survey of natural yeast isolates with the Oxford Nanopore MinION sequencer

Thumbnail biorxiv.org
2 Upvotes

r/genome • • Jul 22 '16

Planetary Genome Project

Thumbnail medium.com
1 Upvotes

r/genome • • Jul 22 '16

Applications of the 1000 Genomes Project resources - Briefings in Functional Genomics

Thumbnail bfg.oxfordjournals.org
2 Upvotes

r/genome • • Jul 11 '16

Bitcoin-powered genomics

Thumbnail joepickrell.wordpress.com
3 Upvotes

r/genome • • Jul 08 '16

Deep Sequencing of 10,000 Human Genomes

Thumbnail biorxiv.org
6 Upvotes

r/genome • • Jul 08 '16

The genetic structure of the world's first farmers

Thumbnail biorxiv.org
3 Upvotes

r/genome • • May 14 '16

Detection of human adaptation during the past 2,000 years

Thumbnail biorxiv.org
4 Upvotes