Assessing structural variation in a personal genome—towards a human reference diploid genome

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作者
Adam C English
William J Salerno
Oliver A Hampton
Claudia Gonzaga-Jauregui
Shruthi Ambreth
Deborah I Ritter
Christine R Beck
Caleb F Davis
Mahmoud Dahdouli
Singer Ma
Andrew Carroll
Narayanan Veeraraghavan
Jeremy Bruestle
Becky Drees
Alex Hastie
Ernest T Lam
Simon White
Pamela Mishra
Min Wang
Yi Han
Feng Zhang
Pawel Stankiewicz
David A Wheeler
Jeffrey G Reid
Donna M Muzny
Jeffrey Rogers
Aniko Sabo
Kim C Worley
James R Lupski
Eric Boerwinkle
Richard A Gibbs
机构
[1] Human Genome Sequencing Center,Department of Molecular and Human Genetics
[2] Baylor College of Medicine,Collaborative Innovation Center of Genetics and Development
[3] Baylor College of Medicine,Department of Pediatrics
[4] DNAnexus,Human Genetics Center
[5] Spiral Genetics Inc,undefined
[6] BioNano Genomics Inc,undefined
[7] School of Life Sciences,undefined
[8] Fudan University,undefined
[9] Baylor College of Medicine,undefined
[10] Texas Children’s Hospital,undefined
[11] University of Texas Health Science Center at Houston,undefined
来源
BMC Genomics | / 16卷
关键词
Structural variation; Long-read sequencing; SV software;
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