ASHG News

Exome sequencing: potential diagnostic assay for unexplained intellectual disability, scientists report at ASHG 2012

Exome sequencing: potential diagnostic assay for unexplained intellectual disability, scientists report at ASHG 2012

NEWS For more information: Cathy Yarbrough press@ashg.org 858-243-1814 Embargo: 10:30 a.m. PT, Thursday, Nov. 8, 2012 Research findings confirming that de novo mutations represent a major cause of previously unexplained intellectual disability were presented today (Nov. 8) at the American Society of Human Genetics 2012 meeting in San Francisco. Josep de Ligt, M.Sc., bioinformatician and... Read More

DNA sequencing of infants and children with anatomical defects of unknown causes: challenges and opportunities

DNA sequencing of infants and children with anatomical defects of unknown causes: challenges and opportunities

NEWS For more information: Cathy Yarbrough press@ashg.org 858-243-1814 Embargo: 4:30 p.m. PT, Tuesday, Nov. 6, 2012 A presentation at the American Society of Human Genetics 2012 meeting today (Nov. 6) updated genetics experts about a one-year-old research initiative that brought together researchers, clinicians and policy experts to tackle the challenges of incorporating new genomic technologies... Read More

Humans, chimpanzees and monkeys share DNA but not gene regulatory mechanisms, scientists report at ASHG 2012

Humans, chimpanzees and monkeys share DNA but not gene regulatory mechanisms, scientists report at ASHG 2012

NEWS For more information: Cathy Yarbrough press@ashg.org 858-243-1814 Embargo: 4:30 p.m. PT, Tuesday, Nov. 6, 2012 Humans share over 90% of their DNA with their primate cousins. The expression or activity patterns of genes differ across species in ways that help explain each species’ distinct biology and behavior. DNA factors that contribute to the differences... Read More

New method helps link genomic variation to protein production

New method helps link genomic variation to protein production

NEWS For more information: Cathy Yarbrough press@ashg.org 858-243-1814 Embargo: 4:30 p.m. PT, Tuesday, Nov. 6, 2012 Scientists have adopted a novel laboratory approach for determining the effect of genetic variation on the efficiency of the biological process that translates a gene’s DNA sequence into a protein, such as hemoglobin, according to a presentation today (Nov.... Read More

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