MOESM4 of Targeted capture enrichment followed by NGS: development and validation of a single comprehensive NIPT for chromosomal aneuploidies, microdeletion syndromes and monogenic diseases

Additional file 4: Table S3. List of 50 monogenic diseases screened by comprehensive NIPT. Targeted mutations covered are outlined along with detection frequencies in corresponding populations

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PID https://www.doi.org/10.6084/m9.figshare.10730858
PID https://www.doi.org/10.6084/m9.figshare.10730858.v1
URL https://dx.doi.org/10.6084/m9.figshare.10730858.v1
URL https://figshare.com/articles/MOESM4_of_Targeted_capture_enrichment_followed_by_NGS_development_and_validation_of_a_single_comprehensive_NIPT_for_chromosomal_aneuploidies_microdeletion_syndromes_and_monogenic_diseases/10730858
URL http://dx.doi.org/10.6084/m9.figshare.10730858
URL https://dx.doi.org/10.6084/m9.figshare.10730858
URL http://dx.doi.org/10.6084/m9.figshare.10730858.v1
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Access Right Open Access
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Author Koumbaris, George
Author Achilleos, Achilleas
Author Nicolaou, Michalis
Author Loizides, Charalambos
Author Tsangaras, Kyriakos
Author Kypri, Elena
Author Mina, Petros
Author Sismani, Carolina
Author Velissariou, Voula
Author Christopoulou, Georgia
Author Constantoulakis, Pantelis
Author Manolakos, Emmanouil
Author Papoulidis, Ioannis
Author Stambouli, Danai
Author Ioannides, Marios
Author Patsalis, Philippos
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Collected From Datacite; figshare
Hosted By figshare
Publication Date 2019-11-22
Publisher figshare
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Language Undetermined
Resource Type Dataset
keyword FOS: Biological sciences
keyword FOS: Computer and information sciences
system:type dataset
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Source https://science-innovation-policy.openaire.eu/search/dataset?datasetId=dedup_wf_001::be047544049196c45b0394968c220dec
Author jsonws_user
Last Updated 15 December 2020, 18:53 (CET)
Created 15 December 2020, 18:53 (CET)