ASHG 2014
Recent articles
Autism risk region arose during human evolution
Humans may be uniquely prone to rearrangements of chromosome 16 that lead to autism, according to preliminary results presented Saturday at the American Society of Human Genetics Annual Meeting in San Diego.
Autism risk region arose during human evolution
Humans may be uniquely prone to rearrangements of chromosome 16 that lead to autism, according to preliminary results presented Saturday at the American Society of Human Genetics Annual Meeting in San Diego.
Autism-linked deletion sparks symptoms via many genes
Deletion or duplication of 16p11.2, a chromosomal region linked to autism, may trigger symptoms via the interactions of genes both within and outside the region at a key point in development. Researchers presented these preliminary results Sunday at the 2014 American Society of Human Genetics Annual Meeting in San Diego.
Autism-linked deletion sparks symptoms via many genes
Deletion or duplication of 16p11.2, a chromosomal region linked to autism, may trigger symptoms via the interactions of genes both within and outside the region at a key point in development. Researchers presented these preliminary results Sunday at the 2014 American Society of Human Genetics Annual Meeting in San Diego.
Massive sequencing database helps interpret mutations’ role
Researchers have analyzed more than 90,000 exomes — the protein-coding regions of the genome — the largest such set yet, they announced Monday at the American Society of Human Genetics Annual Meeting in San Diego. The resource gives scientists an invaluable tool to probe the significance of specific mutations.
Massive sequencing database helps interpret mutations’ role
Researchers have analyzed more than 90,000 exomes — the protein-coding regions of the genome — the largest such set yet, they announced Monday at the American Society of Human Genetics Annual Meeting in San Diego. The resource gives scientists an invaluable tool to probe the significance of specific mutations.
Scientists plan to release thousands of whole autism genomes
Researchers have sequenced the whole genomes of 1,000 people with autism and their parents, they announced yesterday at the American Society of Human Genetics Annual Meeting in San Diego. These sequences, and another 1,000 that are on the way, will eventually be freely available online.
Scientists plan to release thousands of whole autism genomes
Researchers have sequenced the whole genomes of 1,000 people with autism and their parents, they announced yesterday at the American Society of Human Genetics Annual Meeting in San Diego. These sequences, and another 1,000 that are on the way, will eventually be freely available online.
Whole-genome sequencing reveals new types of autism risk
Much of the genetic risk for autism may reside in regulatory regions of the genome, hidden from traditional methods of sequence analysis. That's the upshot of preliminary results from three studies presented yesterday at the American Society of Human Genetics Annual Meeting in San Diego.
Whole-genome sequencing reveals new types of autism risk
Much of the genetic risk for autism may reside in regulatory regions of the genome, hidden from traditional methods of sequence analysis. That's the upshot of preliminary results from three studies presented yesterday at the American Society of Human Genetics Annual Meeting in San Diego.
Explore more from The Transmitter
Autism program chief among National Institutes of Health layoffs
The termination is one of more than 1,000 employee cuts at the U.S. agency this week.
Autism program chief among National Institutes of Health layoffs
The termination is one of more than 1,000 employee cuts at the U.S. agency this week.
This paper changed my Life: Bill Newsome reflects on a quadrilogy of classic visual perception studies
The 1970s papers from Goldberg and Wurtz made ambitious mechanistic studies of higher brain functions seem feasible.
This paper changed my Life: Bill Newsome reflects on a quadrilogy of classic visual perception studies
The 1970s papers from Goldberg and Wurtz made ambitious mechanistic studies of higher brain functions seem feasible.
Science must step away from nationally managed infrastructure
Scientific data and independence are at risk. We need to work with community-driven services and university libraries to create new multi-country organizations that are resilient to political interference.
Science must step away from nationally managed infrastructure
Scientific data and independence are at risk. We need to work with community-driven services and university libraries to create new multi-country organizations that are resilient to political interference.