Advances in optical mapping for genomic research.
Comput Struct Biotechnol J
; 18: 2051-2062, 2020.
Article
em En
| MEDLINE
| ID: mdl-32802277
ABSTRACT
Recent advances in optical mapping have allowed the construction of improved genome assemblies with greater contiguity. Optical mapping also enables genome comparison and identification of large-scale structural variations. Association of these large-scale genomic features with biological functions is an important goal in plant and animal breeding and in medical research. Optical mapping has also been used in microbiology and still plays an important role in strain typing and epidemiological studies. Here, we review the development of optical mapping in recent decades to illustrate its importance in genomic research. We detail its applications and algorithms to show its specific advantages. Finally, we discuss the challenges required to facilitate the optimization of optical mapping and improve its future development and application.
3D, three-dimensional; DBG, de Bruijn graph; DLS, direct label and strain; DNA, deoxyribonucleic acid; Genome assembly; Hi-C, high-throughput chromosome conformation capture; Mb, million base pair; Next generation sequencing; OLC, overlap-layout-consensus; Optical mapping; PCR, polymerase chain reaction; PacBio, Pacific Biosciences; SRS, short-read sequencing; SV, structural variation; Structural variation; bp, base pair; kb, kilobase pair
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article