Enhancing SNV identification in whole-genome sequencing data through the incorporation of known genetic variants into the minimap2 index

Autor: Egor Guguchkin, Artem Kasianov, Maksim Belenikin, Gaukhar Zobkova, Ekaterina Kosova, Vsevolod Makeev, Evgeny Karpulevich

Publikováno v: BMC Bioinformatics, Vol 25, Iss 1, Pp 1-12 (2024)

Abstract Motivation Alignment of reads to a reference genome sequence is one of the key steps in the analysis of human whole-genome sequencing data obtained through Next-generation sequencing (NGS) technologies. The quality of the subsequent steps of

Externí odkaz: https://doaj.org/article/5673c13f49cb427882fab0752bb16df8

The human genome as the common heritage of humanity

Autor: Faith Kabata, Donrich Thaldar

Publikováno v: Frontiers in Genetics, Vol 14 (2023)

While debate on the international regulation of human genomic research remains unsettled, the Universal Declaration on the Human Genome and Human Rights, 1997 qualifies the human genome as “heritage of humankind” in a symbolic sense. Using docume

Externí odkaz: https://doaj.org/article/9af189f8e84f49119ac40e68831a7c72

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From the reference human genome to human pangenome: Premise, promise and challenge

Autor: Vipin Singh, Shweta Pandey, Anshu Bhardwaj

Publikováno v: Frontiers in Genetics, Vol 13 (2022)

The Reference Human Genome remains the single most important resource for mapping genetic variations and assessing their impact. However, it is monophasic, incomplete and not representative of the variation that exists in the population. Given the ex

Externí odkaz: https://doaj.org/article/01af457dd7bd47d1bf0f862c9effbba1

Semi-automated assembly of high-quality diploid human reference genomes

Autor: Jarvis, Erich D, Formenti, Giulio, Rhie, Arang, Guarracino, Andrea, Yang, Chentao, Wood, Jonathan, Tracey, Alan, Thibaud-Nissen, Francoise, Vollger, Mitchell R, Porubsky, David, Cheng, Haoyu, Asri, Mobin, Logsdon, Glennis A, Carnevali, Paolo, Chaisson, Mark JP, Chin, Chen-Shan, Cody, Sarah, Collins, Joanna, Ebert, Peter, Escalona, Merly, Fedrigo, Olivier, Fulton, Robert S, Fulton, Lucinda L, Garg, Shilpa, Gerton, Jennifer L, Ghurye, Jay, Granat, Anastasiya, Green, Richard E, Harvey, William, Hasenfeld, Patrick, Hastie, Alex, Haukness, Marina, Jaeger, Erich B, Jain, Miten, Kirsche, Melanie, Kolmogorov, Mikhail, Korbel, Jan O, Koren, Sergey, Korlach, Jonas, Lee, Joyce, Li, Daofeng, Lindsay, Tina, Lucas, Julian, Luo, Feng, Marschall, Tobias, Mitchell, Matthew W, McDaniel, Jennifer, Nie, Fan, Olsen, Hugh E, Olson, Nathan D, Pesout, Trevor, Potapova, Tamara, Puiu, Daniela, Regier, Allison, Ruan, Jue, Salzberg, Steven L, Sanders, Ashley D, Schatz, Michael C, Schmitt, Anthony, Schneider, Valerie A, Selvaraj, Siddarth, Shafin, Kishwar, Shumate, Alaina, Stitziel, Nathan O, Stober, Catherine, Torrance, James, Wagner, Justin, Wang, Jianxin, Wenger, Aaron, Xiao, Chuanle, Zimin, Aleksey V, Zhang, Guojie, Wang, Ting, Li, Heng, Garrison, Erik, Haussler, David, Hall, Ira, Zook, Justin M, Eichler, Evan E, Phillippy, Adam M, Paten, Benedict, Howe, Kerstin, Miga, Karen H, Human Pangenome Reference Consortium

Publikováno v: Nature, vol 611, iss 7936

The current human reference genome, GRCh38, represents over 20 years of effort to generate a high-quality assembly, which has benefitted society1,2. However, it still has many gaps and errors, and does not represent a biological genome as it is a ble

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::f74db28526f54f800f6cf512961bfe07
https://escholarship.org/uc/item/69p7t34k