Literature DB >> 30013048

Strelka2: fast and accurate calling of germline and somatic variants.

Sangtae Kim1, Konrad Scheffler1, Aaron L Halpern1, Mitchell A Bekritsky2, Eunho Noh1, Morten Källberg2,3, Xiaoyu Chen1, Yeonbin Kim1, Doruk Beyter4,5, Peter Krusche2, Christopher T Saunders6.   

Abstract

We describe Strelka2 ( https://github.com/Illumina/strelka ), an open-source small-variant-calling method for research and clinical germline and somatic sequencing applications. Strelka2 introduces a novel mixture-model-based estimation of insertion/deletion error parameters from each sample, an efficient tiered haplotype-modeling strategy, and a normal sample contamination model to improve liquid tumor analysis. For both germline and somatic calling, Strelka2 substantially outperformed the current leading tools in terms of both variant-calling accuracy and computing cost.

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Year:  2018        PMID: 30013048     DOI: 10.1038/s41592-018-0051-x

Source DB:  PubMed          Journal:  Nat Methods        ISSN: 1548-7091            Impact factor:   28.547


  310 in total

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Journal:  Elife       Date:  2019-05-28       Impact factor: 8.140

2.  Coding and noncoding drivers of mantle cell lymphoma identified through exome and genome sequencing.

Authors:  Prasath Pararajalingam; Krysta M Coyle; Sarah E Arthur; Nicole Thomas; Miguel Alcaide; Barbara Meissner; Merrill Boyle; Quratulain Qureshi; Bruno M Grande; Christopher Rushton; Graham W Slack; Andrew J Mungall; Constantine S Tam; Rishu Agarwal; Sarah-Jane Dawson; Georg Lenz; Sriram Balasubramanian; Randy D Gascoyne; Christian Steidl; Joseph Connors; Diego Villa; Timothy E Audas; Marco A Marra; Nathalie A Johnson; David W Scott; Ryan D Morin
Journal:  Blood       Date:  2020-07-30       Impact factor: 22.113

Review 3.  Detecting Causal Variants in Mendelian Disorders Using Whole-Genome Sequencing.

Authors:  Abdul Rezzak Hamzeh; T Daniel Andrews; Matt A Field
Journal:  Methods Mol Biol       Date:  2021

4.  Pembrolizumab in Relapsed and Refractory Mycosis Fungoides and Sézary Syndrome: A Multicenter Phase II Study.

Authors:  Michael S Khodadoust; Alain H Rook; Pierluigi Porcu; Francine Foss; Alison J Moskowitz; Andrei Shustov; Satish Shanbhag; Lubomir Sokol; Steven P Fling; Nirasha Ramchurren; Robert Pierce; Asa Davis; Richard Shine; Shufeng Li; Sophia Fong; Jinah Kim; Yi Yang; Wendy M Blumenschein; Jennifer H Yearley; Biswajit Das; Rajesh Patidar; Vivekananda Datta; Erin Cantu; Justine N McCutcheon; Chris Karlovich; P Mickey Williams; Priyanka B Subrahmanyam; Holden T Maecker; Steven M Horwitz; Elad Sharon; Holbrook E Kohrt; Martin A Cheever; Youn H Kim
Journal:  J Clin Oncol       Date:  2019-09-18       Impact factor: 44.544

5.  A P53-Independent DNA Damage Response Suppresses Oncogenic Proliferation and Genome Instability.

Authors:  Katerina D Fagan-Solis; Dennis A Simpson; Rashmi J Kumar; Luciano G Martelotto; Lisle E Mose; Naim U Rashid; Alice Y Ho; Simon N Powell; Y Hannah Wen; Joel S Parker; Jorge S Reis-Filho; John H J Petrini; Gaorav P Gupta
Journal:  Cell Rep       Date:  2020-02-04       Impact factor: 9.423

6.  Branched evolution and genomic intratumor heterogeneity in the pathogenesis of cutaneous T-cell lymphoma.

Authors:  Aishwarya Iyer; Dylan Hennessey; Sandra O'Keefe; Jordan Patterson; Weiwei Wang; Gane Ka-Shu Wong; Robert Gniadecki
Journal:  Blood Adv       Date:  2020-06-09

Review 7.  Germline Variation and Somatic Alterations in Ewing Sarcoma.

Authors:  Mitchell J Machiela; Thomas G P Grünewald
Journal:  Methods Mol Biol       Date:  2021

8.  Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.

Authors:  Karsten Krug; Eric J Jaehnig; Shankha Satpathy; Lili Blumenberg; Alla Karpova; Meenakshi Anurag; George Miles; Philipp Mertins; Yifat Geffen; Lauren C Tang; David I Heiman; Song Cao; Yosef E Maruvka; Jonathan T Lei; Chen Huang; Ramani B Kothadia; Antonio Colaprico; Chet Birger; Jarey Wang; Yongchao Dou; Bo Wen; Zhiao Shi; Yuxing Liao; Maciej Wiznerowicz; Matthew A Wyczalkowski; Xi Steven Chen; Jacob J Kennedy; Amanda G Paulovich; Mathangi Thiagarajan; Christopher R Kinsinger; Tara Hiltke; Emily S Boja; Mehdi Mesri; Ana I Robles; Henry Rodriguez; Thomas F Westbrook; Li Ding; Gad Getz; Karl R Clauser; David Fenyö; Kelly V Ruggles; Bing Zhang; D R Mani; Steven A Carr; Matthew J Ellis; Michael A Gillette
Journal:  Cell       Date:  2020-11-18       Impact factor: 41.582

9.  Unifying package managers, workflow engines, and containers: Computational reproducibility with BioNix.

Authors:  Justin Bedő; Leon Di Stefano; Anthony T Papenfuss
Journal:  Gigascience       Date:  2020-11-18       Impact factor: 6.524

10.  Systematic Establishment of Robustness and Standards in Patient-Derived Xenograft Experiments and Analysis.

Authors:  Yvonne A Evrard; Anuj Srivastava; Jelena Randjelovic; James H Doroshow; Dennis A Dean; Jeffrey S Morris; Jeffrey H Chuang
Journal:  Cancer Res       Date:  2020-03-09       Impact factor: 12.701

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