Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. (Record no. 23337868)
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| 000 -LEADER | |
|---|---|
| fixed length control field | 01691 a2200517 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250516183949.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201501s 0 0 eng d |
| 022 ## - INTERNATIONAL STANDARD SERIAL NUMBER | |
| International Standard Serial Number | 1098-1004 |
| 024 7# - OTHER STANDARD IDENTIFIER | |
| Standard number or code | 10.1002/humu.22490 |
| 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 | Watson, Christopher M |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20150129 |
| 245 00 - TITLE STATEMENT | |
| Title | Robust diagnostic genetic testing using solution capture enrichment and a novel variant-filtering interface. |
| Medium | [electronic resource] |
| 260 ## - PUBLICATION, DISTRIBUTION, ETC. | |
| Name of publisher, distributor, etc. | Human mutation |
| Date of publication, distribution, etc. | Apr 2014 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 434-41 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Axonemal Dyneins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Codon, Nonsense |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Dyneins |
| General subdivision | genetics |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genes, Neoplasm |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Predisposition to Disease |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Testing |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Variation |
| 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 | Kartagener Syndrome |
| General subdivision | diagnosis |
| 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 | Polymorphism, Single Nucleotide |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Reproducibility of Results |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Software |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | User-Computer Interface |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Crinnion, Laura A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Morgan, Joanne E |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Harrison, Sally M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Diggle, Christine P |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Adlard, Julian |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Lindsay, Helen A |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Camm, Nick |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Charlton, Ruth |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sheridan, Eamonn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bonthron, David T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Taylor, Graham R |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carr, Ian M |
| 773 0# - HOST ITEM ENTRY | |
| Title | Human mutation |
| Related parts | vol. 35 |
| -- | no. 4 |
| -- | p. 434-41 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1002/humu.22490">https://doi.org/10.1002/humu.22490</a> |
| Public note | Available from publisher's website |
No items available.