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New Neurodevelopmental Syndrome Identified
Study pinpoints underlying genetic mutations, raising hopes for targeted therapies.
Uncovering Hidden Genomic Alterations that Drive Cancers
Tested on large tumor genomics database, REVEALER method allows researchers to connect genomics to cell function.
Gene Behind Rare Childhood Syndrome Identified
Online activism by one patient’s mother spurred research collaboration which led to the identification of a new genetic syndrome.
Resilience Project Identifies Rare Unaffected Individuals
Researchers from Mount Sinai and Sage Bionetworks report analysis of nearly 600,000 genomes for resilience project.
Rare DNA Will Have Nowhere To Hide
Two National Institutes of Health grants back Rice University effort to develop new diagnostics.
Virus Causing Tilapia Die-Offs Identified
Discovery of the virus causing Tilapia die-offs in Israel and Ecuador points the way to protecting a fish that feeds multitudes.
Children With Cancer To Get New Gene Test
Pilot study will sequence 81 cancer genes in children’s tumours to help personalise cancer treatment.
How The Bat Got Its Wings
Finding may provide clues to human limb development and malformations.
Lupus Study Shows Precision Medicine’s Potential to Define the Genetics of Autoimmune Disease
Researchers at UT Southwestern have used next-generation DNA sequencing technology to identify more than 1,000 gene variants that affect susceptibility to SLE.
Illuminating the Broad Spectrum of Disease
PRISM efficiently tests drug compounds in multiple cell lines simultaneously, accelerating discovery of targeted therapies in the service of precision medicine.
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Human Mutation
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Human Mutationis a peer-reviewed journal thatoffers publication of original Research Articles,Methods, Mutation Updates, Reviews, Database Articles, Mutations in Brief (MIBs), Rapid Communications,and Letters on broad aspects of mutation researchin humans. Reports of novel DNA variations and theirphenotypic consequences, reports of SNPs demonstrated as valuable for genomic analysis, descriptions of new molecular detection methods, and novel approaches to clinicaldiagnosis are welcomed. Novel reports of gene organization at the genomic level, reported in the context of mutation investigation, may be considered. The journal provides a uniqueforum for the exchange of ideas, methods, and applicationsof interest to molecular, human, and medical geneticistsin academic, industrial, and clinical researchsettings worldwide.

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