Targeted resequencing articles within Nature Communications

Featured

• Article
  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

• Article
  09 November 2017 | Open Access

  Prevalence and detection of low-allele-fraction variants in clinical cancer samples

  High-throughput sequencing is used to identify somatic variants in cancer patients. Here, the authors perform panel-based profiling of 5095 clinical samples and demonstrate that many clinically-actionable variants have low variant allele fractions, requiring assays with high detection sensitivity.

  • Hyun-Tae Shin
  • , Yoon-La Choi
  •  & Woong-Yang Park

• Article
  22 May 2017 | Open Access

  Ultrasensitive and high-efficiency screen of de novo low-frequency mutations by o2n-seq

  Detection ofde novo, low frequency mutations is important for characterising heterogeneous cell populations, such as those found in cancer cell populations. Here the authors present o2n-seq, an ultrasensitive method with highly efficient data usage for detection of rare mutations.

  • Kaile Wang
  • , Shujuan Lai
  •  & Jue Ruan

• Article
  29 November 2016 | Open Access

  Truncation and constitutive activation of the androgen receptor by diverse genomic rearrangements in prostate cancer

  Castration-resistant prostate cancer frequently presents with persistent androgen receptor signalling. Here, the authors find that the androgen receptor is subject to genetic rearrangements, resulting in variants with ligand-independent activity.

  • Christine Henzler
  • , Yingming Li
  •  & Scott M. Dehm

• Article
  19 May 2015 | Open Access

  Large-scale recent expansion of European patrilineages shown by population resequencing

  The origins and antiquity of the people of Europe has been much debated. Here, the authors sequence 3.7 Mb of the Y chromosome in over 300 Europeans and Middle Easterners and show a recent, continent-wide and male-specific expansion dating back to the Bronze Age.

  • Chiara Batini
  • , Pille Hallast
  •  & Mark A. Jobling

• Article
  30 November 2010 | Open Access

  Deep resequencing reveals excess rare recent variants consistent with explosive population growth

  To fully catalogue rare genetic variation in humans, many samples need to be examined. In this study, Coventryet al. resequenced two genes, KCNJ11 and HHEX, in 13,715 humans, and concluded that most of the sequence variation arose recently and that variation is greater than expected.

  • Alex Coventry
  • , Lara M. Bull-Otterson
  •  & Charles F. Sing