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Spectrum: Autism Research News

Tag: whole-exome sequencing

July 2012

Geneticists join forces for autism sequencing push

by  /  16 July 2012

Researchers have launched an effort to yoke together disparate gene sequencing projects in the U.S., Canada and the U.K., aiming to double the number of known autism-related genes in the next three to four years.

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Exome sequencing identifies unknown disorders

by  /  9 July 2012

By sequencing the protein-coding region of the genome of a single affected family member, researchers were able to diagnose 20 percent of people in 85 consanguineous families with unknown neurodevelopmental disorders, according to research published 13 June in Science Translational Medicine.

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June 2012

Focus on function may help unravel autism’s complex genetics

by ,  /  26 June 2012

To find the pathogenic mutations in complex disorders such as autism, researchers may need to conduct sophisticated analyses of the genetic functions that are disrupted, says geneticist Aravinda Chakravarti.

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May 2012

Genetics: Search for recessive mutations reveals autism genes

by  /  30 May 2012

By screening for recessive mutations, which are present in both copies of a gene, researchers have identified four autism candidates that may be involved in neuronal signaling, according to a study published 12 April in PLoS Genetics.

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Chromosome exchanges reveal new autism-related genes

by  /  3 May 2012

Large-scale swapping of genetic material between chromosomes may play an important role in autism, according to a study published 27 April in Cell.

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April 2012

Fast-forward

by  /  27 April 2012

In the last three years, autism researchers have gone from sequencing single genes to whole exomes, as highlighted at the Translational Neuroscience Symposium in Switzerland last week.

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Large sequencing study ties autism genes to fragile X

by  /  26 April 2012

Children with autism carry twice as many new and damaging genetic mutations as typically developing children, according to a new study published in Neuron. The researchers also identified intriguing genetic links between autism and fragile X syndrome.

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New diagnostic

by  /  17 April 2012

Parents searching for a genetic diagnosis for their child with autism now have a new option: a test that analyzes 62 different genes linked to syndromic autism, meaning cases of the disorder caused by mutation of a single gene.

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Hundreds of genes involved in autism, sequencing studies say

by  /  4 April 2012

The largest set of exome sequencing studies of children with autism and their families to date has identified a handful of genes that may increase risk of the disorder, according to research published in Nature.

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January 2012

To make big data available to all, reach for the clouds

by  /  5 January 2012

As the amount of genomics and other data rapidly grows, researchers are turning to cloud computing; commercial services for remote data storage and processing that allow even those with little infrastructure to handle big data.

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