@article{d6da2929688948b38358e1c4313c5a50,
title = "Assembly of a pan-genome from deep sequencing of 910 humans of African descent",
abstract = "We used a deeply sequenced dataset of 910 individuals, all of African descent, to construct a set of DNA sequences that is present in these individuals but missing from the reference human genome. We aligned 1.19 trillion reads from the 910 individuals to the reference genome (GRCh38), collected all reads that failed to align, and assembled these reads into contiguous sequences (contigs). We then compared all contigs to one another to identify a set of unique sequences representing regions of the African pan-genome missing from the reference genome. Our analysis revealed 296,485,284 bp in 125,715 distinct contigs present in the populations of African descent, demonstrating that the African pan-genome contains ~10% more DNA than the current human reference genome. Although the functional significance of nearly all of this sequence is unknown, 387 of the novel contigs fall within 315 distinct protein-coding genes, and the rest appear to be intergenic.",
author = "Sherman, {Rachel M.} and Juliet Forman and Valentin Antonescu and Daniela Puiu and Michelle Daya and Nicholas Rafaels and Boorgula, {Meher Preethi} and Sameer Chavan and Candelaria Vergara and Ortega, {Victor E.} and Levin, {Albert M.} and Celeste Eng and Maria Yazdanbakhsh and Wilson, {James G.} and Javier Marrugo and Lange, {Leslie A.} and Williams, {L. Keoki} and Harold Watson and Ware, {Lorraine B.} and Olopade, {Christopher O.} and Olufunmilayo Olopade and Oliveira, {Ricardo R.} and Carole Ober and Nicolae, {Dan L.} and Meyers, {Deborah A.} and Alvaro Mayorga and Jennifer Knight-Madden and Tina Hartert and Hansel, {Nadia N.} and Foreman, {Marilyn G.} and Ford, {Jean G.} and Faruque, {Mezbah U.} and Dunston, {Georgia M.} and Luis Caraballo and Burchard, {Esteban G.} and Bleecker, {Eugene R.} and Araujo, {Maria I.} and Herrera-Paz, {Edwin F.} and Monica Campbell and Cassandra Foster and Taub, {Margaret A.} and Beaty, {Terri H.} and Ingo Ruczinski and RASIKA Mathias and Barnes, {Kathleen C.} and Salzberg, {Steven L.}",
note = "Publisher Copyright: {\textcopyright} 2018, The Author(s).",
year = "2019",
month = jan,
day = "1",
doi = "10.1038/s41588-018-0273-y",
language = "English (US)",
volume = "51",
pages = "30--35",
journal = "Nature genetics",
issn = "1061-4036",
publisher = "Nature Publishing Group",
number = "1",
}