Results 121 to 130 of about 4,090,293 (192)

Evaluation of the efficacy of optical genome mapping in prenatal diagnosis: a retrospective cohort study. [PDF]

J Transl Med
Yin K, Lü Y, Zhang H, Li M, Chang J, Yang X, Qi Q, Zhou X, Guo J, Wang Y, Wang C, Li W, Hao N, Jiang Y.   +13 more
europepmc   +1 more source

A Physical Map of the Human Genome

, 2001
International Human Genome Mapping Consortium
core  

Structural Variant and Repeat Expansion Findings Identified by Optical Genome Mapping in Complex Autism Spectrum Disorder With Concomitant Neurodevelopmental Disorders. [PDF]

Hum Mutat
Mutlu MB, Öğütlü ÖBG, Öz Ö, Duymuş F, Seyhan S, Tokaç AGB, Tezcan E, Öğütlü H, Demiryılmaz F, Silahtarlıoğlu N, Bilgil K, Elma S, Erdoğan M, Gümüş H, Kumandaş S, Kılıçaslan F.   +15 more
europepmc   +1 more source

P573: Genome-wide short tandem repeat expansion screening using optical genome mapping*

Genetics in Medicine Open
James Yu, Mike Gallagher, Shuk Shukor, Alex Hastie, Alka Chaubey   +4 more
doaj   +1 more source

SNP-Based Chromosomal Microarray Analysis in the Era of Optical Genome Mapping: An Enriched Case-Series Evaluating Copy-Neutral Events. [PDF]

Cancers (Basel)
Marr AR, Gonzales PR, Golem S.
europepmc   +1 more source

Cover Memorandum and Draft of Memorandum to HUGO-Americas Ad Hoc Mapping Committee, dated 1990 August 24

, 1990
Lawrence Berkeley Laboratory. Human Genome Center, Cantor, Charles R.   +1 more
core  

Combined optical genome mapping and cnv-seq identify complex Y-chromosome rearrangements and ectopy in 46,XX testicular disorder of sex development. [PDF]

Mol Cytogenet
Wang H, Wang H, Xu Z, Chen P, Zheng X, Pan H, Zhang H, Zheng J.   +7 more
europepmc   +1 more source

Optical genome mapping of a complex structural rearrangement family line on chromosome 18. [PDF]

Hereditas
Cai L, Jiang Y, Zhang N, Chen X.
europepmc   +1 more source

The Silent Revolution of the Genome: The Role of Optical Genome Mapping in Acute Lymphoblastic Leukemia. [PDF]

Cancers (Basel)
Simio C, Molica M, De Fazio L, Rossi M.
europepmc   +1 more source

Rare Structural Variants Uncovered by Optical Genome Mapping in Multisystem Inflammatory Syndrome in Children (MIS-C). [PDF]

Adv Genet (Hoboken)
Brownstein CA, van der Made CI, Cabral K, Rockowitz S, Kang D, Schieck M, Pang AWC, Robinson JM, Hastie AR, Chaubey A, C.O.V.I.D19hostgenomeS.V. Consortium, Hoischen A, Beggs AH, Adebamowo CA, Andalibi A, Bacanu SA, Bafna V, Bahl J, Barseghyan H, Beggs A, Burdette L, Butte M, Constantoulakis P, Crandall KA, Dehkordi SR, Dennis M, Fang G, Fedrigo O, Finlay D, Goldman MA, Gurusamy U, Hayes V, Hickey G, Hoischen A, Illig T, Ioannidis A, Jarvis E, Koizumi N, Kolhe R, Laamarti M, Labranche C, Leibel S, Levy B, Loose M, Mello C, Nasir J, Phung TL, Rao CPV, Ross T, Sahajpal NS, Shamanna RK, Soto DC, Trablesi A, Wang ZX, Williams SL, Wright V, Zhao H, Zody M.   +57 more
europepmc   +1 more source