Benjamin M. Costa
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View article: Paired plus-minus sequencing is an ultra-high throughput and accurate method for dual strand sequencing of DNA molecules
Paired plus-minus sequencing is an ultra-high throughput and accurate method for dual strand sequencing of DNA molecules Open
Distinguishing real biological variation in the form of single-nucleotide variants (SNVs) from errors is a major challenge for genome sequencing technologies. This is particularly true in settings where SNVs are at low frequency such as ca…
View article: Direct measurement of the male germline mutation rate in individuals using sequential sperm samples
Direct measurement of the male germline mutation rate in individuals using sequential sperm samples Open
Mutations that accumulate in the human male germline with age are a major driver of genetic diversity and contribute to genetic diseases. However, aging-related male germline mutation rates have not been measured directly in germline cells…
View article: Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing
Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing Open
Mutations accumulate in the genome of every cell of the body throughout life, causing cancer and other genetic diseases 1-4 . Almost all of these mosaic mutations begin as nucleotide mismatches or damage in only one of the two strands of t…