• Citer

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.

par Yaldiz, Burcu;Kucuk, Erdi;Hampstead, Juliet;Hofste, Tom;Pfundt, Rolph;Corominas Galbany, Jordi;Rinne, Tuula;Solve-RD Consortium, Sarah;Duerinckx, Helger HG ;Yntema, Alexander;Hoischen, Marcel;Nelen, Christian;Gilissen,
Référence Human genomics, 17, 1, page (39)
Publication Publié, 2023-05-01

Article révisé par les pairs

• Accès en ligne
• Détails
• Contenu
• Statistiques

Résumé :

Exome and genome sequencing are the predominant techniques in the diagnosis and research of genetic disorders. Sufficient, uniform and reproducible/consistent sequence coverage is a main determinant for the sensitivity to detect single-nucleotide (SNVs) and copy number variants (CNVs). Here we compared the ability to obtain comprehensive exome coverage for recent exome capture kits and genome sequencing techniques.