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ey0019.15-18 | Basic Science and Genetics | ESPEYB19

15.18. Life histories of myeloproliferative neoplasms inferred from phylogenies

N Williams , J Lee , E Mitchell , L Moore , EJ Baxter , J Hewinson , KJ Dawson , A Menzies , AL Godfrey , AR Green , PJ Campbell , J Nangalia

Nature. 2022;602(7895):162-8. doi: 10.1038/s41586-021-04312-6.PubMed ID: 35058638Brief summary: This study performed whole-genome sequencing (WGS) of 1013 clonal haematopoietic cell colonies from 12 adult patients aged 2081 years with myeloproliferative neoplasms, a form of blood cancer. They identified 580 133 somatic mutations and used these to reconstruct haematopoietic clonal his...

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ey0019.15-15 | Basic Science and Genetics | ESPEYB19

15.15. Accurate prediction of protein structures and interactions using a three-track neural network

M Baek , F DiMaio , I Anishchenko , J Dauparas , S Ovchinnikov , GR Lee , J Wang , Q Cong , LN Kinch , RD Schaeffer , C Millan , H Park , C Adams , CR Glassman , A DeGiovanni , JH Pereira , AV Rodrigues , Dijk AA van , AC Ebrecht , DJ Opperman , T Sagmeister , C Buhlheller , T Pavkov-Keller , MK Rathinaswamy , U Dalwadi , CK Yip , JE Burke , KC Garcia , NV Grishin , PD Adams , RJ Read , D Baker

Science. 2021;373(6557):871-6. doi: 10.1126/science.abj8754 PubMed ID: 34282049Brief summary: This study reveals a Deep Learning method, RoseTTA fold, based on DeepMinds Alphafold2 framework, to predict 3-dimensional protein structures from 1-dimensional sequence information and generate models of proteinprotein complexes with high accuracy.Previ...

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ey0016.14-13 | (1) | ESPEYB16

14.13. Effect of genetic diagnosis on patients with previously undiagnosed disease

K Splinter , DR Adams , CA Bacino , HJ Bellen , JA Bernstein , AM Cheatle-Jarvela , CM Eng , C Esteves , WA Gahl , R Hamid , HJ Jacob , B Kikani , DM Koeller , IS Kohane , BH Lee , J Loscalzo , X Luo , AT McCray , TO Metz , JJ Mulvihill , SF Nelson , CGS Palmer , JA, 3rd Phillips , L Pick , JH Postlethwait , C Reuter , V Shashi , DA Sweetser , CJ Tifft , NM Walley , MF Wangler , M Westerfield , MT Wheeler , AL Wise , EA Worthey , S Yamamoto , EA Ashley

To read the full abstract: N Engl J Med 2018;379:21312139.The authors reviewed data on 1519 patients referred to the Undiagnosed Diseases Network (UDN), a US NIH funded network linking seven clinical sites. 53% of patients were female and their symptoms were neurologic (40%), musculoskeletal (10%), immunological (7%), gastrointestinal (7%), or rheumatological (6%). Of the 38...

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ESPE Yearbook of Paediatric Endocrinology

15.18. Life histories of myeloproliferative neoplasms inferred from phylogenies

15.15. Accurate prediction of protein structures and interactions using a three-track neural network

14.13. Effect of genetic diagnosis on patients with previously undiagnosed disease

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