Literature DB >> 33436733

Human whole genome sequencing in South Africa.

Brigitte Glanzmann1,2, Tracey Jooste3,4,2, Samira Ghoor3,2, Richard Gordon5, Rizwana Mia5,2, Jun Mao6,2, Hao Li6, Patrick Charls7, Craig Douman7, Maritha J Kotze8,9, Armand V Peeters8, Glaudina Loots10, Monika Esser11, Caroline T Tiemessen12, Robert J Wilkinson13,14,15, Johan Louw3, Glenda Gray16,17, Robin M Warren1, Marlo Möller1,2, Craig Kinnear18,19.   

Abstract

The advent and evolution of next generation sequencing has considerably impacted genomic research. Until recently, South African researchers were unable to access affordable platforms capable of human whole genome sequencing locally and DNA samples had to be exported. Here we report the whole genome sequences of the first six human DNA samples sequenced and analysed at the South African Medical Research Council's Genomics Centre. We demonstrate that the data obtained is of high quality, with an average sequencing depth of 36.41, and that the output is comparable to data generated internationally on a similar platform. The Genomics Centre creates an environment where African researchers are able to access world class facilities, increasing local capacity to sequence whole genomes as well as store and analyse the data.

Entities:  

Year:  2021        PMID: 33436733      PMCID: PMC7803990          DOI: 10.1038/s41598-020-79794-x

Source DB:  PubMed          Journal:  Sci Rep        ISSN: 2045-2322            Impact factor:   4.379


  24 in total

1.  dbSNP: the NCBI database of genetic variation.

Authors:  S T Sherry; M H Ward; M Kholodov; J Baker; L Phan; E M Smigielski; K Sirotkin
Journal:  Nucleic Acids Res       Date:  2001-01-01       Impact factor: 16.971

2.  The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.

Authors:  Aaron McKenna; Matthew Hanna; Eric Banks; Andrey Sivachenko; Kristian Cibulskis; Andrew Kernytsky; Kiran Garimella; David Altshuler; Stacey Gabriel; Mark Daly; Mark A DePristo
Journal:  Genome Res       Date:  2010-07-19       Impact factor: 9.043

3.  Extensive sequencing of seven human genomes to characterize benchmark reference materials.

Authors:  Justin M Zook; David Catoe; Jennifer McDaniel; Lindsay Vang; Noah Spies; Arend Sidow; Ziming Weng; Yuling Liu; Christopher E Mason; Noah Alexander; Elizabeth Henaff; Alexa B R McIntyre; Dhruva Chandramohan; Feng Chen; Erich Jaeger; Ali Moshrefi; Khoa Pham; William Stedman; Tiffany Liang; Michael Saghbini; Zeljko Dzakula; Alex Hastie; Han Cao; Gintaras Deikus; Eric Schadt; Robert Sebra; Ali Bashir; Rebecca M Truty; Christopher C Chang; Natali Gulbahce; Keyan Zhao; Srinka Ghosh; Fiona Hyland; Yutao Fu; Mark Chaisson; Chunlin Xiao; Jonathan Trow; Stephen T Sherry; Alexander W Zaranek; Madeleine Ball; Jason Bobe; Preston Estep; George M Church; Patrick Marks; Sofia Kyriazopoulou-Panagiotopoulou; Grace X Y Zheng; Michael Schnall-Levin; Heather S Ordonez; Patrice A Mudivarti; Kristina Giorda; Ying Sheng; Karoline Bjarnesdatter Rypdal; Marc Salit
Journal:  Sci Data       Date:  2016-06-07       Impact factor: 6.444

4.  A reference human genome dataset of the BGISEQ-500 sequencer.

Authors:  Jie Huang; Xinming Liang; Yuankai Xuan; Chunyu Geng; Yuxiang Li; Haorong Lu; Shoufang Qu; Xianglin Mei; Hongbo Chen; Ting Yu; Nan Sun; Junhua Rao; Jiahao Wang; Wenwei Zhang; Ying Chen; Sha Liao; Hui Jiang; Xin Liu; Zhaopeng Yang; Feng Mu; Shangxian Gao
Journal:  Gigascience       Date:  2017-05-01       Impact factor: 6.524

Review 5.  Development of Bioinformatics Infrastructure for Genomics Research.

Authors:  Nicola J Mulder; Ezekiel Adebiyi; Marion Adebiyi; Seun Adeyemi; Azza Ahmed; Rehab Ahmed; Bola Akanle; Mohamed Alibi; Don L Armstrong; Shaun Aron; Efejiro Ashano; Shakuntala Baichoo; Alia Benkahla; David K Brown; Emile R Chimusa; Faisal M Fadlelmola; Dare Falola; Segun Fatumo; Kais Ghedira; Amel Ghouila; Scott Hazelhurst; Itunuoluwa Isewon; Segun Jung; Samar Kamal Kassim; Jonathan K Kayondo; Mamana Mbiyavanga; Ayton Meintjes; Somia Mohammed; Abayomi Mosaku; Ahmed Moussa; Mustafa Muhammd; Zahra Mungloo-Dilmohamud; Oyekanmi Nashiru; Trust Odia; Adaobi Okafor; Olaleye Oladipo; Victor Osamor; Jellili Oyelade; Khalid Sadki; Samson Pandam Salifu; Jumoke Soyemi; Sumir Panji; Fouzia Radouani; Oussama Souiai; Özlem Tastan Bishop
Journal:  Glob Heart       Date:  2017-03-13

6.  Allegations of misuse of African DNA in the UK: Will data protection legislation in South Africa be sufficient to prevent a recurrence?

Authors:  Keymanthri Moodley; Anita Kleinsmidt
Journal:  Dev World Bioeth       Date:  2020-08-07       Impact factor: 2.294

7.  The Sequence Alignment/Map format and SAMtools.

Authors:  Heng Li; Bob Handsaker; Alec Wysoker; Tim Fennell; Jue Ruan; Nils Homer; Gabor Marth; Goncalo Abecasis; Richard Durbin
Journal:  Bioinformatics       Date:  2009-06-08       Impact factor: 6.937

8.  Human genome sequencing using unchained base reads on self-assembling DNA nanoarrays.

Authors:  Radoje Drmanac; Andrew B Sparks; Matthew J Callow; Aaron L Halpern; Norman L Burns; Bahram G Kermani; Paolo Carnevali; Igor Nazarenko; Geoffrey B Nilsen; George Yeung; Fredrik Dahl; Andres Fernandez; Bryan Staker; Krishna P Pant; Jonathan Baccash; Adam P Borcherding; Anushka Brownley; Ryan Cedeno; Linsu Chen; Dan Chernikoff; Alex Cheung; Razvan Chirita; Benjamin Curson; Jessica C Ebert; Coleen R Hacker; Robert Hartlage; Brian Hauser; Steve Huang; Yuan Jiang; Vitali Karpinchyk; Mark Koenig; Calvin Kong; Tom Landers; Catherine Le; Jia Liu; Celeste E McBride; Matt Morenzoni; Robert E Morey; Karl Mutch; Helena Perazich; Kimberly Perry; Brock A Peters; Joe Peterson; Charit L Pethiyagoda; Kaliprasad Pothuraju; Claudia Richter; Abraham M Rosenbaum; Shaunak Roy; Jay Shafto; Uladzislau Sharanhovich; Karen W Shannon; Conrad G Sheppy; Michel Sun; Joseph V Thakuria; Anne Tran; Dylan Vu; Alexander Wait Zaranek; Xiaodi Wu; Snezana Drmanac; Arnold R Oliphant; William C Banyai; Bruce Martin; Dennis G Ballinger; George M Church; Clifford A Reid
Journal:  Science       Date:  2009-11-05       Impact factor: 47.728

9.  A framework for variation discovery and genotyping using next-generation DNA sequencing data.

Authors:  Mark A DePristo; Eric Banks; Ryan Poplin; Kiran V Garimella; Jared R Maguire; Christopher Hartl; Anthony A Philippakis; Guillermo del Angel; Manuel A Rivas; Matt Hanna; Aaron McKenna; Tim J Fennell; Andrew M Kernytsky; Andrey Y Sivachenko; Kristian Cibulskis; Stacey B Gabriel; David Altshuler; Mark J Daly
Journal:  Nat Genet       Date:  2011-04-10       Impact factor: 38.330

10.  Comparative analysis of novel MGISEQ-2000 sequencing platform vs Illumina HiSeq 2500 for whole-genome sequencing.

Authors:  Dmitriy Korostin; Nikolay Kulemin; Vladimir Naumov; Vera Belova; Dmitriy Kwon; Alexey Gorbachev
Journal:  PLoS One       Date:  2020-03-16       Impact factor: 3.240

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  6 in total

1.  African Genetic Representation in the Context of SARS-CoV-2 Infection and COVID-19 Severity.

Authors:  Desiree C Petersen; Chrystal Steyl; Denise Scholtz; Bienyameen Baker; Ibtisam Abdullah; Caitlin Uren; Marlo Möller
Journal:  Front Genet       Date:  2022-05-10       Impact factor: 4.772

2.  Inherited and De Novo Variation in Lithuanian Genomes: Introduction to the Analysis of the Generational Shift.

Authors:  Alina Urnikyte; Laura Pranckeniene; Ingrida Domarkiene; Svetlana Dauengauer-Kirliene; Alma Molyte; Ausra Matuleviciene; Ingrida Pilypiene; Vaidutis Kučinskas
Journal:  Genes (Basel)       Date:  2022-03-23       Impact factor: 4.141

Review 3.  Genetics Matters: Voyaging from the Past into the Future of Humanity and Sustainability.

Authors:  Acga Cheng; Jennifer Ann Harikrishna; Charles S Redwood; Lei Cheng Lit; Swapan K Nath; Kek Heng Chua
Journal:  Int J Mol Sci       Date:  2022-04-02       Impact factor: 6.208

4.  A View on Genomic Medicine Activities in Africa: Implications for Policy.

Authors:  C Victor Jongeneel; Maritha J Kotze; Archana Bhaw-Luximon; Faisal M Fadlelmola; Yasmina J Fakim; Yosr Hamdi; Samar Kamal Kassim; Judit Kumuthini; Victoria Nembaware; Fouzia Radouani; Nicki Tiffin; Nicola Mulder
Journal:  Front Genet       Date:  2022-04-27       Impact factor: 4.599

5.  Whole Exome Sequencing in South Africa: Stakeholder Views on Return of Individual Research Results and Incidental Findings.

Authors:  Nicole Van Der Merwe; Raj Ramesar; Jantina De Vries
Journal:  Front Genet       Date:  2022-06-08       Impact factor: 4.772

6.  African wild dogs (Lycaon pictus) from the Kruger National Park, South Africa are currently not inbred but have low genomic diversity.

Authors:  Christina Meiring; Haiko Schurz; Paul van Helden; Eileen Hoal; Gerard Tromp; Craig Kinnear; Léanie Kleynhans; Brigitte Glanzmann; Louis van Schalkwyk; Michele Miller; Marlo Möller
Journal:  Sci Rep       Date:  2022-09-02       Impact factor: 4.996

  6 in total

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