Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. (Record no. 27429416)
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|---|---|
| fixed length control field | 03349 a2201033 4500 |
| 005 - DATE AND TIME OF LATEST TRANSACTION | |
| control field | 20250517165418.0 |
| 008 - FIXED-LENGTH DATA ELEMENTS--GENERAL INFORMATION | |
| fixed length control field | 201809s 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/gim.2017.119 |
| 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 | Lionel, Anath C |
| 264 #0 - PRODUCTION, PUBLICATION, DISTRIBUTION, MANUFACTURE, AND COPYRIGHT NOTICE | |
| Date of production, publication, distribution, manufacture, or copyright notice | 20180926 |
| 245 00 - TITLE STATEMENT | |
| Title | Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. |
| 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. | 04 2018 |
| 300 ## - PHYSICAL DESCRIPTION | |
| Extent | 435-443 p. |
| Other physical details | digital |
| 500 ## - GENERAL NOTE | |
| General note | Publication Type: Journal Article; Research Support, Non-U.S. Gov't |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Computational Biology |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | DNA Copy Number Variations |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Female |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Association Studies |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Genetic Diseases, Inborn |
| General subdivision | diagnosis |
| 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 | Humans |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Male |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Molecular Sequence Annotation |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Phenotype |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Sequence Analysis, DNA |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Exome Sequencing |
| General subdivision | methods |
| 650 04 - SUBJECT ADDED ENTRY--TOPICAL TERM | |
| Topical term or geographic name entry element | Whole Genome Sequencing |
| General subdivision | methods |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Costain, Gregory |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Monfared, Nasim |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Walker, Susan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Reuter, Miriam S |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hosseini, S Mohsen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Thiruvahindrapuram, Bhooma |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Merico, Daniele |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Jobling, Rebekah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Nalpathamkalam, Thomas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Pellecchia, Giovanna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sung, Wilson W L |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wang, Zhuozhi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bikangaga, Peter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Boelman, Cyrus |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carter, Melissa T |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cordeiro, Dawn |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cytrynbaum, Cheryl |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dell, Sharon D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dhir, Priya |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Dowling, James J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Heon, Elise |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hewson, Stacy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hiraki, Linda |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Inbar-Feigenberg, Michal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Klatt, Regan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Kronick, Jonathan |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Laxer, Ronald M |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Licht, Christoph |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | MacDonald, Heather |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mercimek-Andrews, Saadet |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Mendoza-Londono, Roberto |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Piscione, Tino |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schneider, Rayfel |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Schulze, Andreas |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Silverman, Earl |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Siriwardena, Komudi |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Snead, O Carter |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sondheimer, Neal |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Sutherland, Joanne |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Vincent, Ajoy |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Wasserman, Jonathan D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Weksberg, Rosanna |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Shuman, Cheryl |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Carew, Chris |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Szego, Michael J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Hayeems, Robin Z |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Basran, Raveen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Stavropoulos, Dimitri J |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Ray, Peter N |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Bowdin, Sarah |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Meyn, M Stephen |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Cohn, Ronald D |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Scherer, Stephen W |
| 700 1# - ADDED ENTRY--PERSONAL NAME | |
| Personal name | Marshall, Christian R |
| 773 0# - HOST ITEM ENTRY | |
| Title | Genetics in medicine : official journal of the American College of Medical Genetics |
| Related parts | vol. 20 |
| -- | no. 4 |
| -- | p. 435-443 |
| 856 40 - ELECTRONIC LOCATION AND ACCESS | |
| Uniform Resource Identifier | <a href="https://doi.org/10.1038/gim.2017.119">https://doi.org/10.1038/gim.2017.119</a> |
| Public note | Available from publisher's website |
No items available.