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Tag: SNPs

July 2012
News

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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News

Genetics: Study links MET gene to emotion recognition

by  /  6 July 2012

Researchers have linked the ability to recognize emotions from facial expressions to MET, a well-known autism gene, according to a study published 27 April in PLoS ONE.

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May 2012
News

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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News

Genetics: Mutations at neuronal junctions linked to autism

by  /  22 May 2012

Researchers have identified four new mutations in the autism-linked gene neurexin-1 in individuals who have autism and severe intellectual disability, they reported 3 April in Neurobiology of Disease.

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News

Genetics: SHANK1 mutations found in men with autism

by  /  11 May 2012

Researchers have identified deletions in SHANK1 — the third member of a gene family that is closely linked to autism — in five men with the disorder, they reported 4 May in the American Journal of Human Genetics. This is the first study linking SHANK1 mutations to people with autism.

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April 2012
News

Giant imaging study identifies genes that govern brain size

by  /  19 April 2012

The largest brain imaging study ever performed has identified candidate genes that influence brain size and general intelligence, according to research published 15 April in Nature Genetics.

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March 2012
News / Toolbox

Fruit fly reference helps link genes to traits

by  /  7 March 2012

Researchers have generated and sequenced almost 200 different strains of fruit flies, a widely used model organism, according to a study published 8 February in Nature. The resource they created, called the Drosophila Genetic Reference Panel, will enable researchers to link genetic variants with aspects of fly biology and behavior.

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February 2012
News

Clinical research: Autism genes linked to autoimmune disease

by  /  29 February 2012

The genetic risk factors for autism may also increase a person’s risk of developing ankylosing spondylitis, a form of arthritis of the spine, and decrease the risk of multiple sclerosis, according to a study published 13 December in Translational Psychiatry.

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January 2012
Opinion

Risky business

by  /  24 January 2012

The genome-wide association study has been the favorite whipping post among some geneticists, but three new reviews come to its defense.

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News

Genetics: X chromosome gene linked to autism in males

by  /  18 January 2012

TBL1X, a gene located on the X chromosome, is associated with autism in males but not in females, according to a study published 3 November in Molecular Autism.

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