Results 171 to 180 of about 15,479 (237)

Personalized pangenome references. [PDF]

Nat Methods
Sirén J, Eskandar P, Ungaro MT, Hickey G, Eizenga JM, Novak AM, Chang X, Chang PC, Kolmogorov M, Carroll A, Monlong J, Paten B.   +11 more
europepmc   +1 more source

Genomic epidemiology and phylogenomics of <i>Magnusiomyces clavatus</i>: a comparative analysis of novel italian and publicly available genomes. [PDF]

Front Cell Infect Microbiol
Rigano G, Giuffrè L, Strangio S, Criseo G, Cascio GL, Alati C, Meliadò A, Martino M, Principe L, Romeo O.   +9 more
europepmc   +1 more source

Assessing DNA methylation detection for primary human tissue using Nanopore sequencing. [PDF]

Genome Res
Genner R, Akeson S, Meredith M, Jerez PA, Malik L, Baker B, Miano-Burkhardt A, CARD-long-read Team, Paten B, Billingsley KJ, Blauwendraat C, Jain M.   +11 more
europepmc   +1 more source

A global view of human centromere variation and evolution. [PDF]

Nature
Gao S, Oshima KK, Chuang SC, Loftus M, Potapova TA, Montanari A, Gordon DS, Yang Z, Human Genome Structural Variation Consortium, Human Pangenome Reference Consortium, Mao Y, Hsieh P, Gerton JL, Konkel MK, Ventura M, Logsdon GA.   +15 more
europepmc   +1 more source

Population differences of chromosome 22q11.2 duplication structure predispose differentially to microdeletion and inversion. [PDF]

Nat Commun
Porubsky D, Yoo D, Koundinya N, Souche E, Dishuck PC, Dierckxsens N, Harvey WT, Munson KM, Hoekzema K, Chan DD, Leung TY, Santos MS, Meynants S, Swillen A, Breckpot J, Tsapalou V, Hasenfeld P, Korbel JO, Human Pangenome Reference Consortium, Lansdorp PM, Vermeesch JR, Eichler EE.   +21 more
europepmc   +1 more source

Highly accurate assembly polishing with DeepPolisher. [PDF]

Genome Res
Mastoras M, Asri M, Brambrink L, Hebbar P, Kolesnikov A, Cook DE, Nattestad M, Lucas J, Won TS, Chang PC, Carroll A, Paten B, Shafin K, plus the Human Pangenome Reference Consortium.   +13 more
europepmc   +1 more source

Using the linear references from the pangenome to discover missing autism variants. [PDF]

Nat Commun
Sui Y, Lin J, Noyes MD, Kwon Y, Wong I, Koundinya N, Harvey WT, Wu M, Hoekzema K, Munson KM, Garcia GH, Knuth J, Wertz J, Wang T, Hennick K, Karunakaran D, Polo Prieto RA, Meyer-Schuman R, Cherry F, Pehlivan D, Suter B, Gustafson JA, Miller DE, Human Pangenome Reference Consortium (HPRC), Berk-Rauch H, Nowakowski TJ, Chakravarti A, Zoghbi HY, Eichler EE.   +28 more
europepmc   +1 more source

Local read haplotagging enables accurate long-read small variant calling. [PDF]

Nat Commun
Kolesnikov A, Cook D, Nattestad M, Brambrink L, McNulty B, Gorzynski J, Goenka S, Ashley EA, Jain M, Miga KH, Paten B, Chang PC, Carroll A, Shafin K.   +13 more
europepmc   +1 more source

GENCODE 2025: reference gene annotation for human and mouse. [PDF]

Nucleic Acids Res
Mudge JM, Carbonell-Sala S, Diekhans M, Martinez JG, Hunt T, Jungreis I, Loveland JE, Arnan C, Barnes I, Bennett R, Berry A, Bignell A, Cerdán-Vélez D, Cochran K, Cortés LT, Davidson C, Donaldson S, Dursun C, Fatima R, Hardy M, Hebbar P, Hollis Z, James BT, Jiang Y, Johnson R, Kaur G, Kay M, Mangan RJ, Maquedano M, Gómez LM, Mathlouthi N, Merritt R, Ni P, Palumbo E, Perteghella T, Pozo F, Raj S, Sisu C, Steed E, Sumathipala D, Suner MM, Uszczynska-Ratajczak B, Wass E, Yang YT, Zhang D, Finn RD, Gerstein M, Guigó R, Hubbard TJP, Kellis M, Kundaje A, Paten B, Tress ML, Birney E, Martin FJ, Frankish A.   +55 more
europepmc   +1 more source

PangyPlot: multi-scale interactive visualization of pangenome variation graphs. [PDF]

Bioinformatics
Mastromatteo S, Chirmade S, Roshandel D, Thiruvahindrapuram B, Wang Z, Patel RV, Sung WWL, Hajianpour A, Wang C, Lin F, Keenan K, Avolio J, Eckford PDW, Ratjen F, Canadian Cystic Fibrosis Gene Modifier Consortium, Strug LJ.   +15 more
europepmc   +1 more source