Comparative Benchmarking of Optical Genome Mapping and Chromosomal Microarray Reveals High Technological Concordance in CNV Identification and Additional Structural Variant Refinement.

Barseghyan, Hayk; Pang, Andy Wing Chun; Clifford, Benjamin; Serrano, Moises A; Chaubey, Alka; Hastie, Alex R

Barseghyan, Hayk; Pang, Andy Wing Chun; Clifford, Benjamin; Serrano, Moises A; Chaubey, Alka; Hastie, Alex R.

Affiliation

Barseghyan H; Bionano, San Diego, CA 92121, USA.
Pang AWC; Center for Genetic Medicine Research, Children's National Hospital, Washington, DC 20010, USA.
Clifford B; Genomics and Precision Medicine, School of Medicine and Health Sciences, George Washington University, Washington, DC 20037, USA.
Serrano MA; Bionano, San Diego, CA 92121, USA.
Chaubey A; Bionano, San Diego, CA 92121, USA.
Hastie AR; Bionano Laboratories, Salt Lake City, UT 84109, USA.

Genes (Basel) ; 14(10)2023 09 26.

Article de En | MEDLINE | ID: mdl-37895217

Sujet(s)
Mots clés

AOH; CMA; CNVs; OGM; SVs; Saphyr; absence of heterozygosity; aneuploidy; chromosomal microarray; optical genome mapping; triploidy

Texte intégral

Ajouter à My VHL

Imprimer

XML

PubMed Links

Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Incapacités de développement / Référenciation Limites: Child / Humans Langue: En Journal: Genes (Basel) Année: 2023 Type de document: Article Pays d'affiliation: États-Unis d'Amérique

Texte intégral

Ajouter à My VHL

Imprimer

XML

PubMed Links

Recherche sur Google