Literature DB >> 35020984

Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting.

John E Gorzynski1, Sneha D Goenka1, Kishwar Shafin2, Tanner D Jensen1, Dianna G Fisk3, Megan E Grove3, Elizabeth Spiteri1, Trevor Pesout2, Jean Monlong2, Gunjan Baid4, Jonathan A Bernstein1, Scott Ceresnak1, Pi-Chuan Chang4, Jeffrey W Christle1, Henry Chubb1, Karen P Dalton1, Kyla Dunn5, Daniel R Garalde6, Joseph Guillory6, Joshua W Knowles1, Alexey Kolesnikov4, Michael Ma1, Tia Moscarello3, Maria Nattestad4, Marco Perez1, Maura R Z Ruzhnikov1, Mehrzad Samadi7, Ankit Setia7, Chris Wright6, Courtney J Wusthoff1, Katherine Xiong1, Tong Zhu7, Miten Jain2, Fritz J Sedlazeck8, Andrew Carroll4, Benedict Paten2, Euan A Ashley9.   

Abstract

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Year:  2022        PMID： 35020984     DOI： 10.1056/NEJMc2112090

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  12 in total

Review 1.  Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress.

Authors:  Juliet K Knowles; Ingo Helbig; Cameron S Metcalf; Laura S Lubbers; Lori L Isom; Scott Demarest; Ethan M Goldberg; Alfred L George; Holger Lerche; Sarah Weckhuysen; Vicky Whittemore; Samuel F Berkovic; Daniel H Lowenstein
Journal:  Epilepsia       Date:  2022-07-17       Impact factor: 6.740

Review 2.  Long-read sequencing for molecular diagnostics in constitutional genetic disorders.

Authors:  Laura K Conlin; Erfan Aref-Eshghi; Deborah A McEldrew; Minjie Luo; Ramakrishnan Rajagopalan
Journal:  Hum Mutat       Date:  2022-09-18       Impact factor: 4.700

3.  Rapid whole genome sequencing of critically ill pediatric patients from genetically underrepresented populations.

Authors:  Nour Halabi; Sathishkumar Ramaswamy; Maha El Naofal; Alan Taylor; Sawsan Yaslam; Ruchi Jain; Roudha Alfalasi; Shruti Shenbagam; Martin Bitzan; Lemis Yavuz; Hamda Abulhoul; Shiva Shankar; Dalwinder Janjua; Devendrasing Jadhav; Munira Mahmoud Al Maazmi; Walid Abuhammour; Alawi Alsheikh-Ali; Mohamed Al Awadhi; Abdulla Al Khayat; Ahmad N Abou Tayoun
Journal:  Genome Med       Date:  2022-05-24       Impact factor: 15.266

4.  Increasing African genomic data generation and sharing to resolve rare and undiagnosed diseases in Africa: a call-to-action by the H3Africa rare diseases working group.

Authors:  Aimé Lumaka; Nadia Carstens; Koenraad Devriendt; Amanda Krause; Benard Kulohoma; Judit Kumuthini; Gerrye Mubungu; John Mukisa; Melissa Nel; Timothy O Olanrewaju; Zané Lombard; Guida Landouré
Journal:  Orphanet J Rare Dis       Date:  2022-06-16       Impact factor: 4.303

5.  Nano2NGS-Muta: a framework for converting nanopore sequencing data to NGS-liked sequencing data for hotspot mutation detection.

Authors:  Jidong Lang; Jiguo Sun; Zhi Yang; Lei He; Yu He; Yanmei Chen; Lei Huang; Ping Li; Jialin Li; Liu Qin
Journal:  NAR Genom Bioinform       Date:  2022-04-21

Review 6.  A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.

Authors:  Shruti Marwaha; Joshua W Knowles; Euan A Ashley
Journal:  Genome Med       Date:  2022-02-28       Impact factor: 15.266

7.  2022: a pivotal year for diagnosis and treatment of rare genetic diseases.

Authors:  Stephen F Kingsmore
Journal:  Cold Spring Harb Mol Case Stud       Date:  2022-03-24

Review 8.  Application of machine learning in understanding plant virus pathogenesis: trends and perspectives on emergence, diagnosis, host-virus interplay and management.

Authors:  Dibyendu Ghosh; Srija Chakraborty; Hariprasad Kodamana; Supriya Chakraborty
Journal:  Virol J       Date:  2022-03-09       Impact factor: 4.099

9.  Rapid-CNS2: rapid comprehensive adaptive nanopore-sequencing of CNS tumors, a proof-of-concept study.

Authors:  Areeba Patel; Helin Dogan; Martin Sill; David T W Jones; Matthias Schlesner; Alexander Payne; Elena Krause; Philipp Sievers; Natalie Schoebe; Daniel Schrimpf; Christina Blume; Damian Stichel; Nadine Holmes; Philipp Euskirchen; Jürgen Hench; Stephan Frank; Violaine Rosenstiel-Goidts; Miriam Ratliff; Nima Etminan; Andreas Unterberg; Christoph Dieterich; Christel Herold-Mende; Stefan M Pfister; Wolfgang Wick; Matthew Loose; Andreas von Deimling; Felix Sahm
Journal:  Acta Neuropathol       Date:  2022-03-31       Impact factor: 15.887

10.  An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.

Authors:  Mallory J Owen; Sebastien Lefebvre; Christian Hansen; Chris M Kunard; David P Dimmock; Laurie D Smith; Gunter Scharer; Rebecca Mardach; Mary J Willis; Annette Feigenbaum; Anna-Kaisa Niemi; Yan Ding; Luca Van Der Kraan; Katarzyna Ellsworth; Lucia Guidugli; Bryan R Lajoie; Timothy K McPhail; Shyamal S Mehtalia; Kevin K Chau; Yong H Kwon; Zhanyang Zhu; Sergey Batalov; Shimul Chowdhury; Seema Rego; James Perry; Mark Speziale; Mark Nespeca; Meredith S Wright; Martin G Reese; Francisco M De La Vega; Joe Azure; Erwin Frise; Charlene Son Rigby; Sandy White; Charlotte A Hobbs; Sheldon Gilmer; Gail Knight; Albert Oriol; Jerica Lenberg; Shareef A Nahas; Kate Perofsky; Kyu Kim; Jeanne Carroll; Nicole G Coufal; Erica Sanford; Kristen Wigby; Jacqueline Weir; Vicki S Thomson; Louise Fraser; Seka S Lazare; Yoon H Shin; Haiying Grunenwald; Richard Lee; David Jones; Duke Tran; Andrew Gross; Patrick Daigle; Anne Case; Marisa Lue; James A Richardson; John Reynders; Thomas Defay; Kevin P Hall; Narayanan Veeraraghavan; Stephen F Kingsmore
Journal:  Nat Commun       Date:  2022-07-26       Impact factor: 17.694
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