Tag: whole-exome sequencing

September 2011
News / Toolbox

Reference set for Prader-Willi, Angelman syndromes debuts

by  /  14 September 2011

Researchers have developed standard genetic reference samples that clinicians can use to diagnose Angelman and Prader-Willi syndromes, two disorders associated with the same chromosomal region.

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News

New mutations spike in offspring of older fathers

by  /  12 September 2011

The offspring of older male mice are 16 times more likely to harbor a spontaneous copy number variation — a deletion or duplication of genetic material — than are the offspring of young males, according to a new study.

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August 2011
News

Genetics: Spontaneous mutations play role in schizophrenia

by  /  30 August 2011

Harmful spontaneous mutations may account for up to half the cases of non-inherited schizophrenia.

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News / Toolbox

New genetic map of developmental disability

by  /  24 August 2011

By comparing the DNA of thousands of children who have developmental disabilities to that of controls, researchers have identified numerous mutations likely to contribute to disease.

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July 2011
News

Genetics: FOXP2 important for early brain development

by  /  8 July 2011

FOXP2, a gene tied to autism and language disorders, is needed for proper wiring of the developing brain, according to a study published 7 July in PLoS Genetics.

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May 2011
News

Family sequencing study boosts two-hit model of autism

by  /  15 May 2011

A new analysis of children with autism and their unaffected parents provides the best evidence to date that mutations in multiple genes may work together to cause autism and related disorders.

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January 2011
News

Genetics: Spontaneous mutations lead to mental retardation

by  /  3 January 2011

Spontaneous mutations that change a single DNA base account for a large proportion of cases of unexplained mental retardation, according to a study published in the December Nature Genetics.

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November 2010
News

Decoding the exome points to new autism genes

by  /  16 November 2010

Sequencing the exomes — regions of the genome that code for proteins — of 18 individuals with autism has revealed new candidate genes for the disorder, researchers reported Sunday at the Society for Neuroscience annual meeting in San Diego.

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April 2010
News

Future of autism genetics is all in the family

by  /  30 April 2010

Two independent teams have identified the genetic culprits of three rare, inherited diseases by sequencing the genomes of several members of the same family. As the cost of whole-genome sequencing plummets, this family-based approach will reveal candidate genes not just for rare diseases but for common, complex disorders such as autism, experts say.

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Opinion

All together now?

by  /  19 April 2010

On 7 April, a group of investigators conducting autism genome sequencing projects met at the New York Academy of Medicine, aiming to establish the ground rules for a potential Autism Sequencing Consortium.

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