Whole Genome Sequencing News and Research

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Whole exome sequencing routinely fails to adequately analyze large segments of DNA

Whole exome sequencing routinely fails to adequately analyze large segments of DNA

DNA tests to provide rapid diagnosis of rare diseases in critically ill infants

DNA tests to provide rapid diagnosis of rare diseases in critically ill infants

Autism risk in children could be predicted by mutations in paternal sperm

Autism risk in children could be predicted by mutations in paternal sperm

Scientists create new classification system for tumors

Scientists create new classification system for tumors

Modifier gene offers a likely explanation for less infection in some patients with cystic fibrosis

Modifier gene offers a likely explanation for less infection in some patients with cystic fibrosis

Study provides most detailed classification of acute myeloid leukemia, myelodysplastic syndrome

Study provides most detailed classification of acute myeloid leukemia, myelodysplastic syndrome

DNA testing for siblings of children with ASD may be predictive of future diagnosis

DNA testing for siblings of children with ASD may be predictive of future diagnosis

Doughnut-shaped circles of ecDNA provide tumor cells with a malignant twist

Doughnut-shaped circles of ecDNA provide tumor cells with a malignant twist

Novel detection method for retinoblastoma

Novel detection method for retinoblastoma

Chemotherapy can cause drug-resistant mutations in pediatric ALL patients who relapse

Chemotherapy can cause drug-resistant mutations in pediatric ALL patients who relapse

Improved Cas9 enzyme reduces chance of off-target CRISPR mutations

Improved Cas9 enzyme reduces chance of off-target CRISPR mutations

NCATS funds 'All of Us Research Program' to evaluate innovative DNA sequencing tools

NCATS funds 'All of Us Research Program' to evaluate innovative DNA sequencing tools

Researchers reveal mechanism involved in altering DNA methylation in cancer

Researchers reveal mechanism involved in altering DNA methylation in cancer

Custom-made oligonucleotide therapy for girl with fatal Batten disease

Custom-made oligonucleotide therapy for girl with fatal Batten disease

Researchers develop customized drug treatment to bypass patient’s unique mutation

Researchers develop customized drug treatment to bypass patient’s unique mutation

New leishmaniasis look-alike parasitic infection reported

New leishmaniasis look-alike parasitic infection reported

Brazilian researchers identify new species of parasite in fatal case of visceral leishmaniasis

Brazilian researchers identify new species of parasite in fatal case of visceral leishmaniasis

Deer can pass tuberculosis to humans, CDC warns

Deer can pass tuberculosis to humans, CDC warns

PWSA (USA) announces support for H.R.4144 - Ending the Diagnostic Odyssey Act of 2019

PWSA (USA) announces support for H.R.4144 - Ending the Diagnostic Odyssey Act of 2019

DNA sequencing helps confirm breast cancer link between Leicester sisters

DNA sequencing helps confirm breast cancer link between Leicester sisters