Results 181 to 190 of about 15,479 (237)

From structural pangenomes to functional panomics in plants. [PDF]

Mol Biol Evol
Cochetel N, Cantu D.
europepmc   +1 more source

Accurate human genome analysis with element avidity sequencing. [PDF]

BMC Bioinformatics
Carroll A, Kolesnikov A, Cook DE, Brambrink L, Wiseman KN, Billings SM, Kruglyak S, Lajoie BR, Zhao J, Levy SE, McLean CY, Shafin K, Nattestad M, Chang PC.   +13 more
europepmc   +1 more source

Substitution Spectrum and Selection at G-quadruplexes in Great Ape Telomere-to-Telomere Genomes. [PDF]

Genome Biol Evol
Zhang X, Mohanty SK, Chiaromonte F, Makova KD.   +3 more
europepmc   +1 more source

Pangenome-based genome inference using integer programming. [PDF]

Genome Res
Chandra G, Hossen MH, Scholz S, Dilthey AT, Gibney D, Jain C.   +5 more
europepmc   +1 more source

Strain-level metagenomic profiling using pangenome graphs with PanTax. [PDF]

Genome Res
Zhang W, Liu Y, Li G, Xu J, Chen E, Schönhuth A, Luo X.   +6 more
europepmc   +1 more source

Long-read low-pass sequencing enhances variant detection in a peanut MAGIC population. [PDF]

G3 (Bethesda)
Lee K, Korani W, Pokhrel S, Wright H, Bentz PC, Ozias-Akins P, Chu Y, Harkess A, Vaughn J, Clevenger J.   +9 more
europepmc   +1 more source

Severus detects somatic structural variation and complex rearrangements in cancer genomes using long-read sequencing. [PDF]

Nat Biotechnol
Keskus AG, Bryant A, Ahmad T, Yoo B, Aganezov S, Goretsky A, Donmez A, Lansdon LA, Rodriguez I, Park J, Liu Y, Cui X, Gardner J, McNulty B, Sacco S, Shetty J, Zhao Y, Tran B, Narzisi G, Helland A, Cook DE, Chang PC, Kolesnikov A, Carroll A, Molloy EK, Bi C, Walter A, Gibson M, Pushel I, Guest E, Pastinen T, Shafin K, Miga KH, Malikic S, Day CP, Robine N, Sahinalp C, Dean M, Farooqi MS, Paten B, Kolmogorov M.   +40 more
europepmc   +1 more source

Author Correction: Advances and prospects for the Human BioMolecular Atlas Program (HuBMAP). [PDF]

Nat Cell Biol
Jain S, Pei L, Spraggins JM, Angelo M, Carson JP, Gehlenborg N, Ginty F, Gonçalves JP, Hagood JS, Hickey JW, Kelleher NL, Laurent LC, Lin S, Lin Y, Liu H, Naba A, Nakayasu ES, Qian WJ, Radtke A, Robson P, Stockwell BR, Van de Plas R, Vlachos IS, Zhou M, HuBMAP Consortium, Börner K, Snyder MP.   +26 more
europepmc   +1 more source

A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disability. [PDF]

Nat Genet
Jadhav B, Garg P, van Vugt JJFA, Ibanez K, Gagliardi D, Lee W, Shadrina M, Mokveld T, Dolzhenko E, Martin-Trujillo A, Gies SJ, Altman G, Rocca C, Barbosa M, Jain M, Lahiri N, Lachlan K, Houlden H, Paten B, Genomics England Research Consortium, Project MinE ALS Sequencing Consortium, Veldink J, Tucci A, Sharp AJ.   +23 more
europepmc   +1 more source

Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection. [PDF]

Am J Hum Genet
Negi S, Stenton SL, Berger SI, Canigiula P, McNulty B, Violich I, Gardner J, Hillaker T, O'Rourke SM, O'Leary MC, Carbonell E, Austin-Tse C, Lemire G, Serrano J, Mangilog B, VanNoy G, Kolmogorov M, Vilain E, O'Donnell-Luria A, Délot E, Miga KH, Monlong J, Paten B.   +22 more
europepmc   +1 more source