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Spectrum: Autism Research News

Tag: whole-genome sequencing

February 2014

First 1,000 days of life could hold keys to autism

by  /  17 February 2014

Autism researchers have high hopes for a new project called the First 1,000 Days of Life, which aims to follow 5,000 women and their babies from pregnancy through two years after birth.

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January 2014

Study pinpoints autism gene in mutation-prone region

by  /  27 January 2014

Mutations in FAN1, a gene in the 15q13.3 chromosomal region, raise the risk of neuropsychiatric disorders including autism and schizophrenia, according to a new study published 7 January in the Proceedings of the National Academy of Sciences.

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December 2013

Lab Libs 2013: A playful look back and ahead

by  /  19 December 2013

What would you do with a carload of money? Which scientist secretly wants to be an NFL coach? Autism researchers fill in the year’s blanks … Mad Libs-style. Read and submit your own.

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September 2013

New model merges data streams to boost gene discovery

by  /  23 September 2013

A new statistical model pulls together information about inherited and spontaneous mutations in a single analysis to enhance the search for autism candidate genes. The method, called transmission and de novo association, or TADA, was described 15 August in PLoS Genetics.

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August 2013

Whole-genome sequencing unearths new autism mutations

by  /  1 August 2013

The first sizable study to use whole-genome sequencing to investigate autism has shown its mettle, revealing new mutations and candidate genes for the disorder, according to a report published 11 July in the American Journal of Human Genetics.

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July 2013

Clinics unroll genome tests for undiagnosed disorders

by  /  8 July 2013

Two university-based clinics have debuted large programs that rely on sequencing to diagnose genetic disorders, including developmental disorders such as autism.

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May 2013

Gender differences take center stage at autism conference

by  /  4 May 2013

Girls with autism carry more mutations than do boys with the disorder, and show greater differences in brain activity and response to social cues, according to several preliminary studies presented at the 2013 International Meeting for Autism Research in San Sebastián, Spain.

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March 2013

Scientists hunt for ‘mini’ hotspots linked to autism

by  /  4 March 2013

Small regions of DNA that are structurally prone to deletions and duplications are unlikely to play a major role in autism, according to research published 7 February in the American Journal of Human Genetics.

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January 2013

Study links autism to genomic ‘hotspots’ of mutation

by  /  21 January 2013

The genome appears to be littered with so-called ‘hotspots,’ areas that are prone to single-letter mutations, according to research published 21 December in Cell.

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December 2012

Study allays fears about usefulness of induced stem cells

by  /  6 December 2012

Some of the genetic variability seen in stem cells derived from skin arises from differences in the skin cells themselves, according to a study published 18 November in Nature. The findings have implications for both stem cell research and our understanding of human biology.

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