Detecting sample swaps in diverse NGS data types using linkage disequilibrium.
Nat Commun
; 11(1): 3697, 2020 07 29.
Article
em En
| MEDLINE
| ID: mdl-32728101
ABSTRACT
As the number of genomics datasets grows rapidly, sample mislabeling has become a high stakes issue. We present CrosscheckFingerprints (Crosscheck), a tool for quantifying sample-relatedness and detecting incorrectly paired sequencing datasets from different donors. Crosscheck outperforms similar methods and is effective even when data are sparse or from different assays. Application of Crosscheck to 8851 ENCODE ChIP-, RNA-, and DNase-seq datasets enabled us to identify and correct dozens of mislabeled samples and ambiguous metadata annotations, representing ~1% of ENCODE datasets.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Desequilíbrio de Ligação
/
Sequenciamento de Nucleotídeos em Larga Escala
Idioma:
En
Ano de publicação:
2020
Tipo de documento:
Article