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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

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Titre:	Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
Auteur:	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,
Informations sur la publication:	Human genomics, 17, 1, page (39)
Statut de publication:	Publié, 2023-05-01
Sujet CREF:	Sciences bio-médicales et agricoles
Mots-clés:	Exome sequencing
	Genome sequencing
	Uniformity of coverage
MeSH keywords:	Humans
	Exome -- genetics
	Exome Sequencing
	High-Throughput Nucleotide Sequencing -- methods
	Genome, Human -- genetics
	Base Sequence
	DNA Copy Number Variations -- genetics
Langue:	Anglais
Identificateurs:	urn:issn:1473-9542
	info:doi/10.1186/s40246-023-00485-5
	info:pii/10.1186/s40246-023-00485-5
	info:pmid/37138343
	PMC10155375