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
Leucovorin saga, and more
Here is a roundup of autism-related news and research spotted around the web for the week of 15 June.
Leucovorin saga, and more
Here is a roundup of autism-related news and research spotted around the web for the week of 15 June.
Models at the speed of thought: How AI coding is reshaping theoretical neuroscience
Agentic coding makes it possible to specify a neuroscience model in hours instead of months. Six neuroscientists weigh in on what that tectonic change may bring to the field.
Models at the speed of thought: How AI coding is reshaping theoretical neuroscience
Agentic coding makes it possible to specify a neuroscience model in hours instead of months. Six neuroscientists weigh in on what that tectonic change may bring to the field.
Writing science that humans and machines can read
Large language models are now routinely used to search, summarize and synthesize the literature at scales impossible for any individual researcher—yet scientific publishing has not adapted to that reality.
Writing science that humans and machines can read
Large language models are now routinely used to search, summarize and synthesize the literature at scales impossible for any individual researcher—yet scientific publishing has not adapted to that reality.