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Study Nearly Doubles Known Cancer-Linked Mutational Signatures
Analyzing the whole genome sequences of more than 18,000 tumors, researchers catalog nearly 60 new patterns of mutations that could inform cancer treatment.
Study Nearly Doubles Known Cancer-Linked Mutational Signatures
Study Nearly Doubles Known Cancer-Linked Mutational Signatures

Analyzing the whole genome sequences of more than 18,000 tumors, researchers catalog nearly 60 new patterns of mutations that could inform cancer treatment.

Analyzing the whole genome sequences of more than 18,000 tumors, researchers catalog nearly 60 new patterns of mutations that could inform cancer treatment.

mutations, genetics & genomics

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Participant’s Diagnosis Halts Gene Therapy Clinical Trial
Amanda Heidt | Aug 12, 2021 | 3 min read
The FDA pauses the research program on a lentivirus-based treatment for a rare neurological condition after a patient developed a bone marrow disorder that could presage leukemia.
No Transgenerational Effects of Chernobyl Radiation Found
Abby Olena, PhD | Apr 22, 2021 | 4 min read
The genomes of the children of people exposed to fallout from the Chernobyl nuclear accident appear to carry no trace of the incident.
Variant Found in Brazil Could Evade Immunity from Past Infection
Lisa Winter | Mar 2, 2021 | 2 min read
The P.1 variant, which has also been detected in five US states, could be responsible for cases of reinfection, according to a preprint.
Long-Lived Trees’ Epigenetic Mutations Serve as a Molecular Clock
Jef Akst | Mar 1, 2021 | 2 min read
Cells found in different branches of a tree have different patterns of DNA methylation, changes in which accumulate over time.
SARS-CoV-2 with Genomic Deletions Escapes an Antibody
Abby Olena, PhD | Feb 16, 2021 | 4 min read
Researchers identify deletions in the N-terminal domain of the spike protein that allow the coronavirus to avoid antibody neutralization and that may contribute to the emergence of new variants.
New SARS-CoV-2 Variant Could Evade Antibodies
Lisa Winter | Jan 22, 2021 | 3 min read
A preprint casts doubt on vaccine effectiveness in light of certain mutations in the 501Y.V2 variant that emerged from South Africa.
Skin Sheltered from Sunlight Still Gathers UV-Linked Mutations
Abby Olena, PhD | Jan 14, 2021 | 3 min read
Whole-genome sequencing reveals a wide range of UV-induced DNA changes in human skin cells, and lighter skin collects more mutations, sometimes to “sky high” levels.
Identical Twins Accumulate Genetic Differences in the Womb
Catherine Offord | Jan 7, 2021 | 4 min read
DNA replication errors during cell division cause monozygotic twins to diverge from each other even during the earliest stages of development, a new study finds.
gene, CRISPR, CRISPR-Cas9, gene editing, human embryo, chromosome, mutation, deletion
CRISPR Gene Editing Prompts Chaos in DNA of Human Embryos
Amanda Heidt | Jun 26, 2020 | 3 min read
Three studies identify unintended consequences of gene editing in human embryos, including large deletions and reshuffling of DNA.
Human Mutation Rates Steady Across Groups—Except in the Amish
Abby Olena, PhD | Jan 29, 2020 | 3 min read
Researchers determined that the incidence of new genetic mutations is comparable in people of different ancestries, but lower in Amish people.
Valerie Arboleda Uses Big Data to Unravel the Biology of a Rare Disease
Shawna Williams | May 1, 2018 | 3 min read
The UCLA geneticist examines how defects in a histone protein lead to symptoms throughout the body.
Rare Disease Geneticist: A Profile of Uta Francke
Anna Azvolinsky | May 1, 2018 | 9 min read
The Stanford University human geneticist identified the genes and genomic abnormalities underlying numerous rare diseases, including Rett  syndrome, and advanced the field of molecular diagnostics. 
Exome Sequencing Helps Crack Rare Disease Diagnosis
Amanda B. Keener | May 1, 2018 | 10+ min read
Clinical analyses of patients’ gene sequences are helping to provide answers where none were available before.
Scientists Reverse Their Controversial Findings of CRISPR's Off-Target Effects
Diana Kwon | Mar 28, 2018 | 2 min read
Last year, researchers claimed the gene-editing method had accuracy issues, but a new whole-genome sequencing analysis by the same team finds otherwise.
Monitoring Mutations with Microfluidics
Ruth Williams | Mar 15, 2018 | 3 min read
A device dubbed the “mother machine” enables real-time observation of mutagenesis in single bacterial cells.  
First Direct-to-Consumer BRCA Test Authorized by FDA
Kerry Grens | Mar 6, 2018 | 2 min read
The agency gave personal genomics company 23andMe the green light to screen samples for breast cancer–related genetic mutations.
Thousands of Mutations Accumulate in the Human Brain Over a Lifetime
Ruth Williams | Dec 7, 2017 | 4 min read
Single-cell genome analyses reveal the amount of mutations a human brain cell will collect from its fetal beginnings until death.
Base Editing Now Able to Convert Adenine-Thymine to Guanine-Cytosine
Catherine Offord | Oct 25, 2017 | 8 min read
With the arrival of a new class of single-nucleotide editors, researchers can target the most common type of pathogenic SNP in humans.
Icelandersā€™ Genomes Hint at Origins of Genetic Diversity
Ashley Yeager | Sep 20, 2017 | 3 min read
An analysis of 14,000 genomes reveals regions where new mutations are more likely to develop.
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