Whole Genome Sequencing News and Research

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New method to measure mutations in father's sperm may reveal ASD risk in future children

New method to measure mutations in father's sperm may reveal ASD risk in future children

Researchers study how structural variations in the genome can lead to cancer

Researchers study how structural variations in the genome can lead to cancer

Research uncovers disease-aggravating mutation in mouse model of GRACILE syndrome

Research uncovers disease-aggravating mutation in mouse model of GRACILE syndrome

Researchers discover new regions of non-coding DNA that may lead to cancer growth

Researchers discover new regions of non-coding DNA that may lead to cancer growth

Some genetic sequencing misses out large parts of the genome

Some genetic sequencing misses out large parts of the genome

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