Targeted resequencing

Targeted resequencing is a method that aims to identify causative mutations within discrete genomic loci in populations by isolating and sequencing genomic regions of interest from a sample library. It is one of the fastest growing applications for next-generation sequencing technologies.

Latest Research and Reviews

Research
20 May 2022 | Open Access

Proof of concept for multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer
- Whitney Whitford
- , Victoria Hawkins
- & Jessie C. Jacobsen
Scientific Reports 12, 8572
Research
20 May 2022 | Open Access

Automated next-generation profiling of genomic alterations in human cancers

The genomic profiling of tumours has not been widely adopted in the clinic due to technical and practical hurdles. Here, the authors develop PGDx elio tissue complete, a scalable, standardised and FDA-cleared test comprising a targeted gene panel and automated machine-learning analysis, which detects clinically relevant sequence biomarkers in cancer samples.
- Laurel A. Keefer
- , James R. White
- & Mark Sausen
Nature Communications 13, 2830
Research
28 September 2021 | Open Access

Contribution of rare variant associations to neurodegenerative disease presentation
- Allison A. Dilliott
- , Abdalla Abdelhady
- & Robert A. Hegele
npj Genomic Medicine 6, 80
Research | 15 September 2021

Multi-omics mapping of human papillomavirus integration sites illuminates novel cervical cancer target genes
- Marissa Iden
- , Shirng-Wern Tsaih
- & Janet S. Rader
British Journal of Cancer 125, 1408-1419
Research
25 August 2021 | Open Access

Comparison of seven single cell whole genome amplification commercial kits using targeted sequencing
- Tamir Biezuner
- , Ofir Raz
- & Ehud Shapiro
Scientific Reports 11, 17171
Research | 12 April 2021

Evaluating the analytical validity of circulating tumor DNA sequencing assays for precision oncology

Reliable detection of mutations below 0.5% variant allele frequency remains a key challenge for circulating tumor DNA sequencing assays.
- Ira W. Deveson
- , Binsheng Gong
- & Joshua Xu
Nature Biotechnology 39, 1115-1128

All Research & Reviews

News and Comment

Research Highlights | 21 December 2020

Complex targeted sequencing in real time

Two new papers in Nature Biotechnology report methods for targeted sequencing of complex DNA samples, achieved in real time during nanopore sequencing runs.
- Darren J. Burgess
Nature Reviews Genetics 22, 67
Correspondence | 30 August 2016

Targeted sequencing informs the evaluation of normal karyotype cytopenic patients for low-grade myelodysplastic syndrome
- E J Duncavage
- , J O'Brien
- & M J Walter
Leukemia 30, 2422-2426
Research Highlights | 16 August 2016

Real-time prioritization of sequencing output
- Darren J. Burgess
Nature Reviews Genetics 17, 503
Correspondence
29 June 2015 | Open Access

Distinct molecular abnormalities underlie unique clinical features of essential thrombocythemia in children
- R Fu
- , D Liu
- & L Zhang
Leukemia 30, 746-749
Research Highlights | 30 September 2014

Searching large and small
- Esther Lau
Nature Reviews Genetics 15, 706-707
Research Highlights | 29 September 2014

Sampling local sequence with proximity ligation

Nature Methods 11, 991

All News & Comment

Targeted resequencing

Latest Research and Reviews

Proof of concept for multiplex amplicon sequencing for mutation identification using the MinION nanopore sequencer

Automated next-generation profiling of genomic alterations in human cancers

Contribution of rare variant associations to neurodegenerative disease presentation

Multi-omics mapping of human papillomavirus integration sites illuminates novel cervical cancer target genes

Comparison of seven single cell whole genome amplification commercial kits using targeted sequencing

Evaluating the analytical validity of circulating tumor DNA sequencing assays for precision oncology

News and Comment

Complex targeted sequencing in real time

Targeted sequencing informs the evaluation of normal karyotype cytopenic patients for low-grade myelodysplastic syndrome

Real-time prioritization of sequencing output

Distinct molecular abnormalities underlie unique clinical features of essential thrombocythemia in children

Searching large and small

Sampling local sequence with proximity ligation

Quick links

Discover content

Publishing policies

Author & Researcher services

Libraries & institutions

Advertising & partnerships

Career development

Regional websites

Legal & Privacy