Exome Sequencing News and Research

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Whole-exome sequencing can help characterize genetic alterations for commonly used bladder cancer cell lines

Whole-exome sequencing can help characterize genetic alterations for commonly used bladder cancer cell lines

Unlocking the first gene to cause otosclerosis: an interview with Dr Ralph Holme

Unlocking the first gene to cause otosclerosis: an interview with Dr Ralph Holme

Northwestern Medicine scientists link TMEM230 gene mutations to Parkinson's disease development

Northwestern Medicine scientists link TMEM230 gene mutations to Parkinson's disease development

Study provides better understanding of sequence of genetic events in colorectal cancer premalignancy

Study provides better understanding of sequence of genetic events in colorectal cancer premalignancy

Researchers identify mutations that may stimulate early cancer growth in precancerous colorectal tissue

Researchers identify mutations that may stimulate early cancer growth in precancerous colorectal tissue

Expanding gene panel beyond known breast/ovarian cancer genes does not add any clinical benefit

Expanding gene panel beyond known breast/ovarian cancer genes does not add any clinical benefit

New study finds genetic overlap between bipolar disorder and autism

New study finds genetic overlap between bipolar disorder and autism

CUMC researchers identify new neurodevelopmental syndrome

CUMC researchers identify new neurodevelopmental syndrome

Exome sequencing improves speed, accuracy of neurogenetic disorder diagnosis

Exome sequencing improves speed, accuracy of neurogenetic disorder diagnosis

Pediatric researchers uncover new syndrome that causes intellectual disability

Pediatric researchers uncover new syndrome that causes intellectual disability

New tool interprets whole-exome tumor sequencing data for better cancer therapies

New tool interprets whole-exome tumor sequencing data for better cancer therapies

New MyGene2 web tool may help find genes influencing Mendelian disorders

New MyGene2 web tool may help find genes influencing Mendelian disorders

Discovery highlights need to improve patient education about genomics

Discovery highlights need to improve patient education about genomics

Researchers reveal inherited genetic mutations associated with ovarian cancer risk

Researchers reveal inherited genetic mutations associated with ovarian cancer risk

Temple team describes use of cadaver DNA to advance genetics learning in medical curriculum

Temple team describes use of cadaver DNA to advance genetics learning in medical curriculum

Genetic profiling ‘feasible’ for paediatric cancer patients

Genetic profiling ‘feasible’ for paediatric cancer patients

Genetic mutations could help explain cause of cancer in pediatric patients

Genetic mutations could help explain cause of cancer in pediatric patients

UAB's Undiagnosed Diseases Program finds answers for mysterious health issues

UAB's Undiagnosed Diseases Program finds answers for mysterious health issues

Research opens door to validation studies in multiple tumor types of liquid biopsy

Research opens door to validation studies in multiple tumor types of liquid biopsy

Many gene variants affect person's response to medication

Many gene variants affect person's response to medication