Literature DB >> 32175479

Variant calling on the GRCh38 assembly with the data from phase three of the 1000 Genomes Project.

Ernesto Lowy-Gallego1, Susan Fairley1, Xiangqun Zheng-Bradley1, Magali Ruffier1, Laura Clarke1, Paul Flicek1.   

Abstract

We present biallelic SNVs called from 2,548 samples across 26 populations from the 1000 Genomes Project, called directly on GRCh38. We believe this will be a useful reference resource for those using GRCh38, representing an improvement over the "lift-overs" of the 1000 Genomes Project data that have been available to date and providing a resource necessary for the full adoption of GRCh38 by the community. Here, we describe how the call set was created and provide benchmarking data describing how our call set compares to that produced by the final phase of the 1000 Genomes Project on GRCh37. Copyright:
© 2019 Lowy-Gallego E et al.

Entities:  

Keywords:  Genomics; population genetics; single nucleotide variation; variant calling; variant discovery

Year:  2019        PMID: 32175479      PMCID: PMC7059836          DOI: 10.12688/wellcomeopenres.15126.1

Source DB:  PubMed          Journal:  Wellcome Open Res        ISSN: 2398-502X


  21 in total

1.  Characterizing mobile element insertions in 5675 genomes.

Authors:  Yiwei Niu; Xueyi Teng; Honghong Zhou; Yirong Shi; Yanyan Li; Yiheng Tang; Peng Zhang; Huaxia Luo; Quan Kang; Tao Xu; Shunmin He
Journal:  Nucleic Acids Res       Date:  2022-03-21       Impact factor: 16.971

2.  A Novel Proteogenomic Integration Strategy Expands the Breadth of Neo-Epitope Sources.

Authors:  Haitao Xiang; Le Zhang; Fanyu Bu; Xiangyu Guan; Lei Chen; Haibo Zhang; Yuntong Zhao; Huanyi Chen; Weicong Zhang; Yijian Li; Leo Jingyu Lee; Zhanlong Mei; Yuan Rao; Ying Gu; Yong Hou; Feng Mu; Xuan Dong
Journal:  Cancers (Basel)       Date:  2022-06-19       Impact factor: 6.575

3.  Predicting embryonic aneuploidy rate in IVF patients using whole-exome sequencing.

Authors:  Siqi Sun; Maximilian Miller; Yanran Wang; Katarzyna M Tyc; Xiaolong Cao; Richard T Scott; Xin Tao; Yana Bromberg; Karen Schindler; Jinchuan Xing
Journal:  Hum Genet       Date:  2022-03-26       Impact factor: 5.881

4.  Evaluating assembly and variant calling software for strain-resolved analysis of large DNA viruses.

Authors:  Zhi-Luo Deng; Akshay Dhingra; Adrian Fritz; Jasper Götting; Philipp C Münch; Lars Steinbrück; Thomas F Schulz; Tina Ganzenmüller; Alice C McHardy
Journal:  Brief Bioinform       Date:  2021-05-20       Impact factor: 11.622

5.  The complete sequence of a human genome.

Authors:  Sergey Nurk; Sergey Koren; Arang Rhie; Mikko Rautiainen; Andrey V Bzikadze; Alla Mikheenko; Mitchell R Vollger; Nicolas Altemose; Lev Uralsky; Ariel Gershman; Sergey Aganezov; Savannah J Hoyt; Mark Diekhans; Glennis A Logsdon; Michael Alonge; Stylianos E Antonarakis; Matthew Borchers; Gerard G Bouffard; Shelise Y Brooks; Gina V Caldas; Nae-Chyun Chen; Haoyu Cheng; Chen-Shan Chin; William Chow; Leonardo G de Lima; Philip C Dishuck; Richard Durbin; Tatiana Dvorkina; Ian T Fiddes; Giulio Formenti; Robert S Fulton; Arkarachai Fungtammasan; Erik Garrison; Patrick G S Grady; Tina A Graves-Lindsay; Ira M Hall; Nancy F Hansen; Gabrielle A Hartley; Marina Haukness; Kerstin Howe; Michael W Hunkapiller; Chirag Jain; Miten Jain; Erich D Jarvis; Peter Kerpedjiev; Melanie Kirsche; Mikhail Kolmogorov; Jonas Korlach; Milinn Kremitzki; Heng Li; Valerie V Maduro; Tobias Marschall; Ann M McCartney; Jennifer McDaniel; Danny E Miller; James C Mullikin; Eugene W Myers; Nathan D Olson; Benedict Paten; Paul Peluso; Pavel A Pevzner; David Porubsky; Tamara Potapova; Evgeny I Rogaev; Jeffrey A Rosenfeld; Steven L Salzberg; Valerie A Schneider; Fritz J Sedlazeck; Kishwar Shafin; Colin J Shew; Alaina Shumate; Ying Sims; Arian F A Smit; Daniela C Soto; Ivan Sović; Jessica M Storer; Aaron Streets; Beth A Sullivan; Françoise Thibaud-Nissen; James Torrance; Justin Wagner; Brian P Walenz; Aaron Wenger; Jonathan M D Wood; Chunlin Xiao; Stephanie M Yan; Alice C Young; Samantha Zarate; Urvashi Surti; Rajiv C McCoy; Megan Y Dennis; Ivan A Alexandrov; Jennifer L Gerton; Rachel J O'Neill; Winston Timp; Justin M Zook; Michael C Schatz; Evan E Eichler; Karen H Miga; Adam M Phillippy
Journal:  Science       Date:  2022-03-31       Impact factor: 63.714

6.  Vargas: heuristic-free alignment for assessing linear and graph read aligners.

Authors:  Charlotte A Darby; Ravi Gaddipati; Michael C Schatz; Ben Langmead
Journal:  Bioinformatics       Date:  2020-06-01       Impact factor: 6.937

7.  Exome variant discrepancies due to reference-genome differences.

Authors:  He Li; Moez Dawood; Michael M Khayat; Jesse R Farek; Shalini N Jhangiani; Ziad M Khan; Tadahiro Mitani; Zeynep Coban-Akdemir; James R Lupski; Eric Venner; Jennifer E Posey; Aniko Sabo; Richard A Gibbs
Journal:  Am J Hum Genet       Date:  2021-06-14       Impact factor: 11.025

8.  Why are rare variants hard to impute? Coalescent models reveal theoretical limits in existing algorithms.

Authors:  Yichen Si; Brett Vanderwerff; Sebastian Zöllner
Journal:  Genetics       Date:  2021-04-15       Impact factor: 4.562

9.  A customized scaffolds approach for the detection and phasing of complex variants by next-generation sequencing.

Authors:  Qiandong Zeng; Natalia T Leach; Zhaoqing Zhou; Hui Zhu; Jean A Smith; Lynne S Rosenblum; Angela Kenyon; Ruth A Heim; Marcia Eisenberg; Stanley Letovsky; Patricia M Okamoto
Journal:  Sci Rep       Date:  2020-09-14       Impact factor: 4.379

10.  GraphAligner: rapid and versatile sequence-to-graph alignment.

Authors:  Mikko Rautiainen; Tobias Marschall
Journal:  Genome Biol       Date:  2020-09-24       Impact factor: 13.583

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.