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developmental disorder

The researchers analyzed variants in more than 1,100 children with severe undiagnosed developmental disorders and their parents using exome sequencing and array-CGH data.

Using arrays and exome sequencing, the study aims to diagnoses children with previously undiagnosed developmental disorders.

Researchers also plan to launch a prospective randomized clinical trial to test the effectiveness of whole-genome sequencing compared to the standard of care.

NEW YORK (GenomeWeb) – Congenica and the UK Northern Health Science Alliance today announced a partnership to develop diagnostic tools aimed at patients with genetic ailments.

NEW YORK (GenomeWeb News) – A subset of genomic disorders stemming from rare copy number variants involve one or more additional CNVs that combine to contribute to the variability observed in these conditions, according to a study appearing online last night in the New England Journal of Medi

A recent study by researchers at Cincinnati Children's Hospital Medical Center has demonstrated that SNP microarrays can identify regions of homozygosity that aid in clinical diagnosis as well as identify instances of close parental relatedness.

Study leader Nigel Carter said that the project will use Agilent Technologies' comparative genomic-hybridization arrays and Illumina's whole-genome SNP-genotyping arrays to gather genetic information on enrolled patients.

The Wellcome Trust Sanger Institute and the National Health Services' Clinical Genetics Services will analyze the genomes of thousands of children with developmental disorders and birth malformations in the hope of developing diagnostics.

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The New York City Police Department will be removing DNA profiles from a local database if they are from people who were never convicted of a crime, the New York Times reports.

Science reports that accusations of sexual assault against a microbiome researcher has also led to questions about his academic certifications.

Wired reports that researchers are analyzing the DNA fish leave behind in water to study their populations.

In Science this week: comprehensive cellular map of the human thymus, evidence of admixture between the ancestors of Neanderthals and Denisovan and a 'superarchaic' population.