Sequence annotation

Definition

Sequence annotation is the process of marking specific features in a DNA, RNA or protein sequence with descriptive information about structure or function.

Latest Research and Reviews

  • Reviews |

    For clinical cases of Mendelian disease that lack a genetic diagnosis, genome and exome sequencing are increasingly used for seeking the genetic cause. This Review discusses the strategies and computational tools for prioritizing the many genetic variants identified in each genome into those that are most likely to be causal for disease. The authors discuss how diverse types of biochemical, evolutionary, pedigree and clinical-phenotype information are used, and they highlight common pitfalls to be aware of for responsible variant prioritization.

    • Karen Eilbeck
    • , Aaron Quinlan
    •  & Mark Yandell
  • Research | | open

    While non-coding synonymous and intronic variants are often not under strong selective constraint, they can be pathogenic through affecting splicing or transcription. Here, the authors develop a score that uses sequence context alterations to predict pathogenicity of synonymous and non-coding genetic variants, and provide a web server of pre-computed scores.

    • Sahar Gelfman
    • , Quanli Wang
    • , K. Melodi McSweeney
    • , Zhong Ren
    • , Francesca La Carpia
    • , Matt Halvorsen
    • , Kelly Schoch
    • , Fanni Ratzon
    • , Erin L. Heinzen
    • , Michael J. Boland
    • , Slavé Petrovski
    •  & David B. Goldstein
  • Reviews |

    The last 25 years has seen a revolution in sequencing, with more than 100 vertebrate genome sequences now available. In this Review, Meadows and Lindblad-Toh discuss how the genomics of non-human organisms can provide insights into vertebrate biology and conservation, and how they can contribute to the understanding of human health and disease.

    • Jennifer R. S. Meadows
    •  & Kerstin Lindblad-Toh
  • Research |

    Hugh Watkins and colleagues meta-analyze data from the UK Biobank along with recent genome-wide association studies for coronary artery disease. They identify 13 new loci that were genome-wide significant and 243 loci at a 5% false discovery rate.

    • Christopher P Nelson
    • , Anuj Goel
    • , Adam S Butterworth
    • , Stavroula Kanoni
    • , Tom R Webb
    • , Eirini Marouli
    • , Lingyao Zeng
    • , Ioanna Ntalla
    • , Florence Y Lai
    • , Jemma C Hopewell
    • , Olga Giannakopoulou
    • , Tao Jiang
    • , Stephen E Hamby
    • , Emanuele Di Angelantonio
    • , Themistocles L Assimes
    • , Erwin P Bottinger
    • , John C Chambers
    • , Robert Clarke
    • , Colin N A Palmer
    • , Richard M Cubbon
    • , Patrick Ellinor
    • , Raili Ermel
    • , Evangelos Evangelou
    • , Paul W Franks
    • , Christopher Grace
    • , Dongfeng Gu
    • , Aroon D Hingorani
    • , Joanna M M Howson
    • , Erik Ingelsson
    • , Adnan Kastrati
    • , Thorsten Kessler
    • , Theodosios Kyriakou
    • , Terho Lehtimäki
    • , Xiangfeng Lu
    • , Yingchang Lu
    • , Winfried März
    • , Ruth McPherson
    • , Andres Metspalu
    • , Mar Pujades-Rodriguez
    • , Arno Ruusalepp
    • , Eric E Schadt
    • , Amand F Schmidt
    • , Michael J Sweeting
    • , Pierre A Zalloua
    • , Kamal AlGhalayini
    • , Bernard D Keavney
    • , Jaspal S Kooner
    • , Ruth J F Loos
    • , Riyaz S Patel
    • , Martin K Rutter
    • , Maciej Tomaszewski
    • , Ioanna Tzoulaki
    • , Eleftheria Zeggini
    • , Jeanette Erdmann
    • , George Dedoussis
    • , Johan L M Björkegren
    • , EPIC-CVD Consortium
    • , CARDIoGRAMplusC4D
    • , The UK Biobank CardioMetabolic Consortium CHD working group
    • , Heribert Schunkert
    • , Martin Farrall
    • , John Danesh
    • , Nilesh J Samani
    • , Hugh Watkins
    •  & Panos Deloukas

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