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14.6. Whole-genome sequencing of patients with rare diseases in a national health system

Turro Ernest , Astle William J , Megy Karyn , Graf Stefan , Greene Daniel , Shamardina Olga , Allen Hana Lango , Sanchis-Juan Alba , Frontini Mattia , Thys Chantal , Stephens Jonathan , Mapeta Rutendo , Burren Oliver S , Downes Kate , Haimel Matthias , Tuna Salih , Deevi Sri V V , Aitman Timothy J , Bennett David L , Calleja Paul , Carss Keren , Caulfield Mark J , Chinnery Patrick F , Dixon Peter H , Gale Daniel P , James Roger , Koziell Ania , Laffan Michael A , Levine Adam P , Maher Eamonn R , Markus Hugh S , Morales Joannella , Morrell Nicholas W , Mumford Andrew D , Ormondroyd Elizabeth , Rankin Stuart , Rendon Augusto , Richardson Sylvia , Roberts Irene , Roy Noemi B A , Saleem Moin A , Smith Kenneth G C , Stark Hannah , Tan Rhea Y Y , Themistocleous Andreas C , Thrasher Adrian J , Watkins Hugh , Webster Andrew R , Wilkins Martin R , Williamson Catherine , Whitworth James , Humphray Sean , Bentley David R , Kingston Nathalie , Walker Neil , Bradley John R , Ashford Sofie , Penkett Christopher J , Freson Kathleen , Stirrups Kathleen E , Raymond F Lucy , Ouwehand Willem H

Nature 2020; 583: 96102https://www.nature.com/articles/s41586-020-2434-2The authors applied whole-genome sequencing (WGS) in 9,802 patients with a rare disease in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. WGS identified the genetic diagnosis in 1138/7065 extensively phenoty...

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ey0015.14-14 | Reliable evidence on mouse knock-outs | ESPEYB15

14.14 Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium

TF Meehan , N Conte , DB West , JO Jacobsen , J Mason , J Warren , CK Chen , I Tudose , M Relac , P Matthews , N Karp , L Santos , T Fiegel , N Ring , H Westerberg , S Greenaway , D Sneddon , H Morgan , GF Codner , ME Stewart , J Brown , N Horner , C International Mouse Phenotyping , M Haendel , N Washington , CJ Mungall , CL Reynolds , J Gallegos , V Gailus-Durner , T Sorg , G Pavlovic , LR Bower , M Moore , I Morse , X Gao , GP Tocchini-Valentini , Y Obata , SY Cho , JK Seong , J Seavitt , AL Beaudet , ME Dickinson , Y Herault , W Wurst , MH de Angelis , KCK Lloyd , AM Flenniken , LMJ Nutter , S Newbigging , C McKerlie , MJ Justice , SA Murray , KL Svenson , RE Braun , JK White , A Bradley , P Flicek , S Wells , WC Skarnes , DJ Adams , H Parkinson , AM Mallon , SDM Brown , D Smedley

To read the full abstract: Nat Genet 2017;49:1231-1238This large international initiative is a major collaboration across 25 research institutes that was set up as part of the scientific community’s response to concerns regarding the notoriously poor reproducibility of scientific research. Up to now, many mouse gene knock-outs have been made and reported, but inconsistency between finding...

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ESPE Yearbook of Paediatric Endocrinology

14.6. Whole-genome sequencing of patients with rare diseases in a national health system

14.14 Disease model discovery from 3,328 gene knockouts by The International Mouse Phenotyping Consortium

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