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Copy Number Variation CNV
Copy Number Variation CNV: is a phenomenon in which divisions of the genome are repeated and the number of repeats in the genome varies between individuals in the human population.
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FEB 10, 2025Genetics & Genomics
The human genome can have some quirky features, like copy number variation. When this happens, an individual carries, or ...Written By: Carmen LeitchAPR 26, 2023Health & MedicineHear how renowned genomic experts saved time and improved the yield of their hereditary cancer and rare disease NGS work ...Sponsored By: SOPHiA GENETICSJAN 17, 2023Clinical & Molecular DX
When it comes to detecting rare cancer-causing mutations, both sensitivity and specificity matter. In the past few years ...Sponsored By: Roche Sequencing and Life ScienceNOV 09, 2022Genetics & Genomics
Sure, MACHETE is a cool name, but the researchers that developed the technique are hoping people don't focus solely on t ...Written By: Carmen LeitchNOV 04, 2022Cell & Molecular Biology
We learn that we inherit two copies of every gene, one from each of our parents, but the story is a bit more complex.Written By: Carmen LeitchNOV 18, 2021Clinical & Molecular DX
Attention-deficit hyperactivity disorder (ADHD) is one of the most common neurodevelopmental disorders. Red flags signal ...Written By: Tara FernandesAPR 18, 2021Genetics & Genomics
It's been unclear whether boys are diagnosed with autism spectrum disorder more often because of detection issues, or if ...Written By: Carmen LeitchMAR 02, 2021Genetics & Genomics
It was a landmark event when the human genome was finally sequenced, and the Human Genome Project came to an end. But li ...Written By: Carmen LeitchNOV 18, 2020Genetics & Genomics
It’s easy to be overwhelmed by the number of workflows that are available for NGS. How do you choose? While ...Sponsored By: Roche DiagnosticsOCT 12, 2020Cancer
In a study published recently in the American Association for Cancer Research journal Clinical Cancer Research, scientis ...Written By: Kathryn DeMuth SullivanJUL 27, 2020Genetics & Genomics
A new computational tool was created by scientists at CHOP and it has now revealed new mutations that are linked to five ...Written By: Carmen LeitchJAN 14, 2020Genetics & Genomics
Some genetic mutations are due to a change in only one base of the genetic code, while others involve large regions of t ...Written By: Carmen LeitchJUL 03, 2019Genetics & Genomics
It may one day be possible to treat psychiatric disorders with therapy that targets genetic mutations, which was done in ...Written By: Carmen LeitchMAY 21, 2019Genetics & Genomics
The Klasies River Cave in South Africa has been the site of many archeological discoveries, including the remains of the ...Written By: Carmen LeitchJUN 26, 2016Cell & Molecular Biology
New work published in Molecular Psychiatry now reports an association of CNV and schizophrenia. In collaboration wi ...Written By: Carmen LeitchAPR 23, 2015Genetics & Genomics
A significant proportion of children with chronic kidney disease (CKD) have unsuspected chromosomal imbalances, includin ...Written By: Ilene Schneider
FEB 10, 2025
Genetics & Genomics
The human genome can have some quirky features, like copy number variation. When this happens, an individual carries, or
...
Written By:
Carmen Leitch
APR 26, 2023
Health & Medicine
Hear how renowned genomic experts saved time and improved the yield of their hereditary cancer and rare disease NGS work
...
Sponsored By:
SOPHiA GENETICS
JAN 17, 2023
Clinical & Molecular DX
When it comes to detecting rare cancer-causing mutations, both sensitivity and specificity matter. In the past few years
...
Sponsored By:
Roche Sequencing and Life Science
NOV 09, 2022
Genetics & Genomics
Sure, MACHETE is a cool name, but the researchers that developed the technique are hoping people don't focus solely on t
...
Written By:
Carmen Leitch
NOV 04, 2022
Cell & Molecular Biology
We learn that we inherit two copies of every gene, one from each of our parents, but the story is a bit more complex.
Written By:
Carmen Leitch
NOV 18, 2021
Clinical & Molecular DX
Attention-deficit hyperactivity disorder (ADHD) is one of the most common neurodevelopmental disorders. Red flags signal
...
Written By:
Tara Fernandes
APR 18, 2021
Genetics & Genomics
It's been unclear whether boys are diagnosed with autism spectrum disorder more often because of detection issues, or if
...
Written By:
Carmen Leitch
MAR 02, 2021
Genetics & Genomics
It was a landmark event when the human genome was finally sequenced, and the Human Genome Project came to an end. But li
...
Written By:
Carmen Leitch
NOV 18, 2020
Genetics & Genomics
It’s easy to be overwhelmed by the number of workflows that are available for NGS. How do you choose? While
...
Sponsored By:
Roche Diagnostics
OCT 12, 2020
Cancer
In a study published recently in the American Association for Cancer Research journal Clinical Cancer Research, scientis
...
Written By:
Kathryn DeMuth Sullivan
JUL 27, 2020
Genetics & Genomics
A new computational tool was created by scientists at CHOP and it has now revealed new mutations that are linked to five
...
Written By:
Carmen Leitch
JAN 14, 2020
Genetics & Genomics
Some genetic mutations are due to a change in only one base of the genetic code, while others involve large regions of t
...
Written By:
Carmen Leitch
JUL 03, 2019
Genetics & Genomics
It may one day be possible to treat psychiatric disorders with therapy that targets genetic mutations, which was done in
...
Written By:
Carmen Leitch
MAY 21, 2019
Genetics & Genomics
The Klasies River Cave in South Africa has been the site of many archeological discoveries, including the remains of the
...
Written By:
Carmen Leitch
JUN 26, 2016
Cell & Molecular Biology
New work published in Molecular Psychiatry now reports an association of CNV and schizophrenia. In collaboration wi
...
Written By:
Carmen Leitch
APR 23, 2015
Genetics & Genomics
A significant proportion of children with chronic kidney disease (CKD) have unsuspected chromosomal imbalances, includin
...
Written By:
Ilene Schneider