Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project | Zendy

Pauline Robbe | Zendy; Niko Popitsch | Zendy; Samantha J.L. Knight | Zendy; Pavlos Antoniou | Zendy; Jennifer Becq | Zendy; Miao He | Zendy; Alexander Kanapin | Zendy; Anastasia Samsonova | Zendy; Dimitrios V. Vavoulis | Zendy; Mark T. Ross | Zendy; Zoya Kingsbury | Zendy; Maité Cabes | Zendy; Sara D.C. Ramos | Zendy; Suzanne Page | Zendy; Hélène Dreau | Zendy; Kate Ridout | Zendy; J. Louise Jones | Zendy; Alice Tuff-Lacey | Zendy; Shirley Henderson | Zendy; Joanne Mason | Zendy; Francesca M. Buffa | Zendy; Clare Verrill | Zendy; David MaldonadoPérez | Zendy; Ioannis Roxanis | Zendy; Elena Collantes | Zendy; Lisa Browning | Zendy; Sunanda Dhar | Zendy; Stephen Damato | Zendy; S. J. Davies | Zendy; Mark J. Caulfield | Zendy; David Bentley | Zendy; Jenny C. Taylor | Zendy; Clare Turnbull | Zendy; Anna Schuh | Zendy

Open Access

Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project

Author(s) -

Pauline Robbe,

Niko Popitsch,

Samantha J.L. Knight,

Pavlos Antoniou,

Jennifer Becq,

Miao He,

Alexander Kanapin,

Anastasia Samsonova,

Dimitrios V. Vavoulis,

Mark T. Ross,

Zoya Kingsbury,

Maité Cabes,

Sara D.C. Ramos,

Suzanne Page,

Hélène Dreau,

Kate Ridout,

J. Louise Jones,

Alice Tuff-Lacey,

Shirley Henderson,

Joanne Mason,

Francesca M. Buffa,

Clare Verrill,

David MaldonadoPérez,

Ioannis Roxanis,

Elena Collantes,

Lisa Browning,

Sunanda Dhar,

Stephen Damato,

S. J. Davies,

Mark J. Caulfield,

David Bentley,

Jenny C. Taylor,

Clare Turnbull,

Anna Schuh

Publication year - 2018

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2017.241

Subject(s) - somatic cell , whole genome sequencing , dna extraction , dna sequencing , genome , dna , cancer , clinical practice , limiting , biology , medicine , computational biology , genetics , gene , polymerase chain reaction , mechanical engineering , family medicine , engineering

Fresh-frozen (FF) tissue is the optimal source of DNA for whole-genome sequencing (WGS) of cancer patients. However, it is not always available, limiting the widespread application of WGS in clinical practice. We explored the viability of using formalin-fixed, paraffin-embedded (FFPE) tissues, available routinely for cancer patients, as a source of DNA for clinical WGS.

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