The quest for the Holy Grail of the $1,000 genome has led to big improvements in sequencing technologies. The original Sanger sequencing brought us the first human genome sequence for a price tag ...

UC Santa Cruz researchers are studying the ways certain genetic elements hide and make copies of themselves, so they can ...

Base editors can correct disease-causing genetic variants. After a neonate had received a diagnosis of severe carbamoyl-phosphate synthetase 1 deficiency, a disease with an estimated 50% mortality ...

These deletions were subsequently validated through PCR and Sanger sequencing using the following primer sequences: forward 5′-GCCAGTTACATGGCTTGGTG-3′ and reverse 5′-GCAGGAGCAGACCATGACTA-3′, targeting ...

It is also useful for graduate students and research scientists who require an introduction to the theory and methods of nanopore sequencing. The book has clear explanations of the principles of this ...

Direct Sanger sequencing of the selected regions was performed using primer pairs designed by the authors (available upon request) to validate the coding or known pathogenic intronic variations ...

For carrier, predictive testing, or screening of a single gene we recommend the Sanger sequencing method. For testing of a wider range of genes, especially for patients with suspected SAIDs, we ...

However, this analysis omits a high percentage of disease-causing single nucleotide variations (SNVs) that warrant further sequencing. Currently, next-generation sequencing can be used in clinical ...

A pipeline for the analysis of CRISPR edited data. It allows the evaluation of the quality of gene editing experiments using targeted next generation sequencing (NGS) data (`targeted`) as well as the ...