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Tag: genetic testing

April 2015
News / Toolbox

Researchers spell out steps to authenticate cell lines

by  /  22 April 2015

A new method for labeling cell lines and checking their quality could improve the validity of study results.

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News

Gene levels in blood forecast autism risk in toddlers

by  /  20 April 2015

A panel of genes expressed in blood may identify toddlers who will later be diagnosed with autism.

6 Comments
News

Genes dwarf environment in autism’s origins, study says

by  /  6 April 2015

The genetic makeup of an individual plays much a bigger role than environmental factors in whether he or she develops autism, according to one of the largest twin studies to date.

23 Comments
February 2015
News

Some sibling sets arrive at autism with different mutations

by  /  5 February 2015

Less than one-third of sibling pairs with autism who carry rare mutations in autism-linked genes share those mutations, according to the largest study yet to sequence whole genomes of people with the disorder. The study questions the assumption that autism’s risk factors run in families, but some experts are skeptical.

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January 2015
News / Toolbox

New database matches mutations with potential effects

by  /  28 January 2015

A new tool helps predict whether large DNA duplications and deletions, common among people with autism, are harmful or benign.
 

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Opinion

Small study bolsters difficult search for autism blood test

by  /  13 January 2015

A set of small molecules in the blood can distinguish people with autism from controls with 81 percent accuracy, claims a biotech firm, but the test faces a long and difficult road to clinical use.

5 Comments
October 2014
News / Toolbox

Paired genetic analysis may pare down list of autism genes

by  /  15 October 2014

Combining analysis of large deletions or duplications in the genome with sequences from protein-coding regions can identify new syndromes, as well as the mutations that cause those disorders, according to a report published 14 September in Nature Genetics.

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News

Brain development gene emerges as strong autism candidate

by  /  2 October 2014

Hundreds of genes are linked to autism, but most have not been clearly characterized. ADNP is one of a small group of genes that, when mutated, seem to lead to autism in a substantial proportion of cases.
 

13 Comments
September 2014
News / Toolbox

New algorithm detects DNA insertions and deletions

by  /  10 September 2014

A new algorithm accurately detects large DNA insertions and deletions in the protein-coding regions of the genome.

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June 2014
News

Genetics: Gene linked to adult regression implicated in Rett

by  /  3 June 2014

A teenage girl with Rett syndrome has a mutation in WFR45, a gene that is mutated in people who abruptly lose motor and mental skills in adulthood, according to a study published 13 March in the Journal of Human Genetics.

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