BackgroundExome 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)
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing / Burcu Yaldiz , Erdi Kucuk # , Juliet Hampstead , Tom Hofste , Rolph Pfundt , Jordi Corominas Galbany , Tuula Rinne , Helger G Yntema , Alexander Hoischen , Marcel Nelen , Christian Gilissen ; Solve-RD consortium; Renzo Guerrini. - In: HUMAN GENOMICS. - ISSN 1479-7364. - ELETTRONICO. - 17:(2023), pp. 39.0-39.0. [10.1186/s40246-023-00485-5]
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing
Renzo Guerrini
2023
Abstract
BackgroundExome 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)
| File | Dimensione | Formato | |
|---|---|---|---|
|
40246_2023_Article_485.pdf
accesso aperto
Tipologia:
Pdf editoriale (Version of record)
Licenza:
Open Access
Dimensione
1.33 MB
Formato
Adobe PDF
|
1.33 MB | Adobe PDF |
I documenti in FLORE sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
