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Genetic variant
Genetic variants define a gene that has encountered a permanent change in its DNA sequence. Some, but not all, genetic variants result in a disease. Genetic variants can be inherited or can develop overtime.
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MAY 27, 2023Genetics & Genomics
Scientists have learned more about a disorder caused by a genetic mutation in which carriers feel minimal or no pain, an ...Written By: Carmen LeitchMAY 15, 2023Cancer
Cardiotoxicity, damage to the heart or cardiovascular system, occurs as an unfortunate side effect associated with many ...Written By: Katie KokolusMAY 11, 2023Genetics & Genomics
Even though most people carry more or less the same genes, there is a significant amount of variation in the sequence of ...Written By: Carmen LeitchAPR 29, 2023Genetics & Genomics
The Zoonomia project is an international effort to understand how a huge array of diverse creatures can arise from mamma ...Written By: Carmen LeitchAPR 27, 2023Clinical & Molecular DX
Prostate cancer impacts men from all ethnic and racial groups, and has particularly high mortality rates compared to oth ...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 GENETICSAPR 20, 2023Genetics & Genomics
Social stress can affect the way genes are expressed. A new study has found that epigenetic effects could explain why so ...Written By: Carmen LeitchAPR 20, 2023Cancer
The bacteria Helicobacter pylori (H. pylori) can infect tissues in the mucosal layer that lines the stomach. ...Written By: Katie KokolusAPR 13, 2023Microbiology
When the Omicron variant of SARS-CoV-2, the virus that causes COVID-19, emerged, it quickly supplanted all other variant ...Written By: Carmen LeitchAPR 11, 2023Cell & Molecular Biology
The number of people with hypermobility is unknown, but the study authors suggested that as many as half of the people i ...Written By: Carmen LeitchAPR 09, 2023Genetics & Genomics
When people experience trauma or if doctors suspect certain medical conditions, scans can be used to look at the brain a ...Written By: Carmen LeitchAPR 07, 2023Health & Medicine
According to a study conducted by the Washington University School of Medicine and published in Nature Mental Healt ...Written By: Kerry CharronAPR 04, 2023Immunology
A case of COVID-19 starts when SARS-CoV-2 infects cells in the nasal passages. Many experts and scientists have therefor ...Written By: Carmen LeitchAPR 02, 2023Genetics & Genomics
SMA is a leading cause of infant mortality. Most cases of the disease are caused by mutations in a gene called SMN1 that ...Written By: Carmen LeitchMAR 22, 2023Genetics & Genomics
CRISPR is a gene editing technique with incredible potential. But the traditional CRISPR-Cas9 approach involves cutting ...Written By: Carmen LeitchMAR 21, 2023Drug Discovery & Development
Until the incredibly infectious Omicron variant emerged and took over, it seemed like there was a never-ending stream of ...Written By: Carmen LeitchMAR 14, 2023Genetics & Genomics
A new study has highlighted how reproductive biology and human behavior influence the number of children a person might ...Written By: Carmen LeitchMAR 08, 2023Genetics & Genomics
People with bipolar disorder (BD) have alternating episodes of depression and mania, in which they are abnormally irrita ...Written By: Carmen LeitchMAR 05, 2023Microbiology
Estimates vary, but Streptococcus pyogenes infections may be responsible for the deaths of over 500,000 people every yea ...Written By: Carmen LeitchFEB 06, 2023Genetics & Genomics
There seems to be a lot of conflicting information about how coffee affects human health. Some studies have found health ...Written By: Carmen LeitchFEB 04, 2023Health & Medicine
The pandemic virus SARS-CoV-2 continues to cause infections as it mutates into new variants. While the vaccines that are ...Written By: Carmen LeitchJAN 31, 2023Genetics & Genomics
The Finnish population has provided investigators with a rare opportunity. Most Finns descend from a small, so-called fo ...Written By: Carmen LeitchJAN 18, 2023Neuroscience
Well established drug treatment might help some of the two-thirds of patients with Alzheimer's Disease.Written By: Amielle MorenoJAN 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 Science
MAY 27, 2023
Genetics & Genomics
Scientists have learned more about a disorder caused by a genetic mutation in which carriers feel minimal or no pain, an
...
Written By:
Carmen Leitch
MAY 15, 2023
Cancer
Cardiotoxicity, damage to the heart or cardiovascular system, occurs as an unfortunate side effect associated with many
...
Written By:
Katie Kokolus
MAY 11, 2023
Genetics & Genomics
Even though most people carry more or less the same genes, there is a significant amount of variation in the sequence of
...
Written By:
Carmen Leitch
APR 29, 2023
Genetics & Genomics
The Zoonomia project is an international effort to understand how a huge array of diverse creatures can arise from mamma
...
Written By:
Carmen Leitch
APR 27, 2023
Clinical & Molecular DX
Prostate cancer impacts men from all ethnic and racial groups, and has particularly high mortality rates compared to oth
...
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
APR 20, 2023
Genetics & Genomics
Social stress can affect the way genes are expressed. A new study has found that epigenetic effects could explain why so
...
Written By:
Carmen Leitch
APR 20, 2023
Cancer
The bacteria Helicobacter pylori (H. pylori) can infect tissues in the mucosal layer that lines the stomach.
...
Written By:
Katie Kokolus
APR 13, 2023
Microbiology
When the Omicron variant of SARS-CoV-2, the virus that causes COVID-19, emerged, it quickly supplanted all other variant
...
Written By:
Carmen Leitch
APR 11, 2023
Cell & Molecular Biology
The number of people with hypermobility is unknown, but the study authors suggested that as many as half of the people i
...
Written By:
Carmen Leitch
APR 09, 2023
Genetics & Genomics
When people experience trauma or if doctors suspect certain medical conditions, scans can be used to look at the brain a
...
Written By:
Carmen Leitch
APR 07, 2023
Health & Medicine
According to a study conducted by the Washington University School of Medicine and published in Nature Mental Healt
...
Written By:
Kerry Charron
APR 04, 2023
Immunology
A case of COVID-19 starts when SARS-CoV-2 infects cells in the nasal passages. Many experts and scientists have therefor
...
Written By:
Carmen Leitch
APR 02, 2023
Genetics & Genomics
SMA is a leading cause of infant mortality. Most cases of the disease are caused by mutations in a gene called SMN1 that
...
Written By:
Carmen Leitch
MAR 22, 2023
Genetics & Genomics
CRISPR is a gene editing technique with incredible potential. But the traditional CRISPR-Cas9 approach involves cutting
...
Written By:
Carmen Leitch
MAR 21, 2023
Drug Discovery & Development
Until the incredibly infectious Omicron variant emerged and took over, it seemed like there was a never-ending stream of
...
Written By:
Carmen Leitch
MAR 14, 2023
Genetics & Genomics
A new study has highlighted how reproductive biology and human behavior influence the number of children a person might
...
Written By:
Carmen Leitch
MAR 08, 2023
Genetics & Genomics
People with bipolar disorder (BD) have alternating episodes of depression and mania, in which they are abnormally irrita
...
Written By:
Carmen Leitch
MAR 05, 2023
Microbiology
Estimates vary, but Streptococcus pyogenes infections may be responsible for the deaths of over 500,000 people every yea
...
Written By:
Carmen Leitch
FEB 06, 2023
Genetics & Genomics
There seems to be a lot of conflicting information about how coffee affects human health. Some studies have found health
...
Written By:
Carmen Leitch
FEB 04, 2023
Health & Medicine
The pandemic virus SARS-CoV-2 continues to cause infections as it mutates into new variants. While the vaccines that are
...
Written By:
Carmen Leitch
JAN 31, 2023
Genetics & Genomics
The Finnish population has provided investigators with a rare opportunity. Most Finns descend from a small, so-called fo
...
Written By:
Carmen Leitch
JAN 18, 2023
Neuroscience
Well established drug treatment might help some of the two-thirds of patients with Alzheimer's Disease.
Written By:
Amielle Moreno
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