Nanopore technology and its applications in gene sequencing

B Lin, J Hui, H Mao - Biosensors, 2021 - mdpi.com
In recent years, nanopore technology has become increasingly important in the field of life
science and biomedical research. By embedding a nano-scale hole in a thin membrane and …

Sequencing depth and coverage: key considerations in genomic analyses

D Sims, I Sudbery, NE Ilott, A Heger… - Nature Reviews …, 2014 - nature.com
Sequencing technologies have placed a wide range of genomic analyses within the
capabilities of many laboratories. However, sequencing costs often set limits to the amount …

Role of non-coding sequence variants in cancer

E Khurana, Y Fu, D Chakravarty, F Demichelis… - Nature Reviews …, 2016 - nature.com
Patients with cancer carry somatic sequence variants in their tumour in addition to the
germline variants in their inherited genome. Although variants in protein-coding regions …

Modernizing the nonhomologous end-joining repertoire: alternative and classical NHEJ share the stage

L Deriano, DB Roth - Annual review of genetics, 2013 - annualreviews.org
DNA double-strand breaks (DSBs) are common lesions that continually threaten genomic
integrity. Failure to repair a DSB has deleterious consequences, including cell death …

V (D) J recombination: mechanism, errors, and fidelity

DB Roth - Mobile DNA III, 2015 - Wiley Online Library
The realization, now more than half a century ago, that B cells can generate antibodies to an
astounding variety of chemical structures sparked intense interest in the “generation of …

Quantifying on-and off-target genome editing

A Hendel, EJ Fine, G Bao, MH Porteus - Trends in biotechnology, 2015 - cell.com
Genome editing with engineered nucleases is a rapidly growing field thanks to
transformative technologies that allow researchers to precisely alter genomes for numerous …

The (lack of) DNA double-strand break repair pathway choice during V (D) J recombination

A Libri, T Marton, L Deriano - Frontiers in Genetics, 2022 - frontiersin.org
DNA double-strand breaks (DSBs) are highly toxic lesions that can be mended via several
DNA repair pathways. Multiple factors can influence the choice and the restrictiveness of …

The RAG recombinase: Beyond breaking

C Lescale, L Deriano - Mechanisms of Ageing and Development, 2017 - Elsevier
DNA double-strand breaks (DSBs) are commonly seen as lesions that threaten genome
integrity and contribute to cancer and aging processes. However, in the context of antigen …

RAG2 mutants alter DSB repair pathway choice in vivo and illuminate the nature of 'alternative NHEJ'

V Gigi, S Lewis, O Shestova, M Mijušković… - Nucleic acids …, 2014 - academic.oup.com
DNA double-stranded breaks (DSBs) can be repaired by several mechanisms, including
classical NHEJ (c-NHEJ) and a poorly defined, error-prone process termed alternative NHEJ …

Analysis and annotation of whole‐genome or whole‐exome sequencing derived variants for clinical diagnosis

EA Worthey - Current protocols in human genetics, 2017 - Wiley Online Library
Over the last 10 years, next‐generation sequencing (NGS) has transformed genomic
research through substantial advances in technology and reduction in the cost of …