Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing. (Record no. 29176713)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01513 a2200421 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250518013736.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 202001s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1530-0366 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1038/s41436-018-0397-6 |
| Source of number or code | doi |
| 040 ## - CATALOGING SOURCE | |
| Original cataloging agency | NLM |
| Language of cataloging | eng |
| Transcribing agency | NLM |
| 100 1# - MAIN ENTRY--PERSONAL NAME | |
| Personal name | Mu, Wenbo |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20200128 |
| 245 00 - TITLE STATEMENT | |
| Title | Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Genetics in medicine : official journal of the American College of Medical Genetics |
| Date of publication, distribution, etc. | 07 2019 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 1603-1610 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Validation Study |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Testing |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | High-Throughput Nucleotide Sequencing |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Neoplasms |
| General subdivision | diagnosis |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Pseudogenes |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sensitivity and Specificity |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Li, Bing |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wu, Sitao |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Chen, Jefferey |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sain, Divya |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Xu, Dong |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Black, Mary Helen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Karam, Rachid |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Gillespie, Katrina |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Farwell Hagman, Kelly D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Guidugli, Lucia |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pronold, Melissa |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Elliott, Aaron |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lu, Hsiao-Mei |
| 773 0# - HOST ITEM ENTRY | |
| Title | Genetics in medicine : official journal of the American College of Medical Genetics |
| Related parts | vol. 21 |
| -- | no. 7 |
| -- | p. 1603-1610 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/s41436-018-0397-6">https://doi.org/10.1038/s41436-018-0397-6</a> |
| Public note | Available from publisher's website |
No items available.