| 000 | 03349 a2201033 4500 | ||
|---|---|---|---|
| 005 | 20250517165418.0 | ||
| 264 | 0 | _c20180926 | |
| 008 | 201809s 0 0 eng d | ||
| 022 | _a1530-0366 | ||
| 024 | 7 |
_a10.1038/gim.2017.119 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aLionel, Anath C | |
| 245 | 0 | 0 |
_aImproved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. _h[electronic resource] |
| 260 |
_bGenetics in medicine : official journal of the American College of Medical Genetics _c04 2018 |
||
| 300 |
_a435-443 p. _bdigital |
||
| 500 | _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aComputational Biology _xmethods |
| 650 | 0 | 4 | _aDNA Copy Number Variations |
| 650 | 0 | 4 | _aExome |
| 650 | 0 | 4 | _aFemale |
| 650 | 0 | 4 |
_aGenetic Association Studies _xmethods |
| 650 | 0 | 4 |
_aGenetic Diseases, Inborn _xdiagnosis |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 |
_aGenetic Testing _xmethods |
| 650 | 0 | 4 | _aGenetic Variation |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 | _aMale |
| 650 | 0 | 4 | _aMolecular Sequence Annotation |
| 650 | 0 | 4 | _aPhenotype |
| 650 | 0 | 4 |
_aSequence Analysis, DNA _xmethods |
| 650 | 0 | 4 |
_aExome Sequencing _xmethods |
| 650 | 0 | 4 |
_aWhole Genome Sequencing _xmethods |
| 700 | 1 | _aCostain, Gregory | |
| 700 | 1 | _aMonfared, Nasim | |
| 700 | 1 | _aWalker, Susan | |
| 700 | 1 | _aReuter, Miriam S | |
| 700 | 1 | _aHosseini, S Mohsen | |
| 700 | 1 | _aThiruvahindrapuram, Bhooma | |
| 700 | 1 | _aMerico, Daniele | |
| 700 | 1 | _aJobling, Rebekah | |
| 700 | 1 | _aNalpathamkalam, Thomas | |
| 700 | 1 | _aPellecchia, Giovanna | |
| 700 | 1 | _aSung, Wilson W L | |
| 700 | 1 | _aWang, Zhuozhi | |
| 700 | 1 | _aBikangaga, Peter | |
| 700 | 1 | _aBoelman, Cyrus | |
| 700 | 1 | _aCarter, Melissa T | |
| 700 | 1 | _aCordeiro, Dawn | |
| 700 | 1 | _aCytrynbaum, Cheryl | |
| 700 | 1 | _aDell, Sharon D | |
| 700 | 1 | _aDhir, Priya | |
| 700 | 1 | _aDowling, James J | |
| 700 | 1 | _aHeon, Elise | |
| 700 | 1 | _aHewson, Stacy | |
| 700 | 1 | _aHiraki, Linda | |
| 700 | 1 | _aInbar-Feigenberg, Michal | |
| 700 | 1 | _aKlatt, Regan | |
| 700 | 1 | _aKronick, Jonathan | |
| 700 | 1 | _aLaxer, Ronald M | |
| 700 | 1 | _aLicht, Christoph | |
| 700 | 1 | _aMacDonald, Heather | |
| 700 | 1 | _aMercimek-Andrews, Saadet | |
| 700 | 1 | _aMendoza-Londono, Roberto | |
| 700 | 1 | _aPiscione, Tino | |
| 700 | 1 | _aSchneider, Rayfel | |
| 700 | 1 | _aSchulze, Andreas | |
| 700 | 1 | _aSilverman, Earl | |
| 700 | 1 | _aSiriwardena, Komudi | |
| 700 | 1 | _aSnead, O Carter | |
| 700 | 1 | _aSondheimer, Neal | |
| 700 | 1 | _aSutherland, Joanne | |
| 700 | 1 | _aVincent, Ajoy | |
| 700 | 1 | _aWasserman, Jonathan D | |
| 700 | 1 | _aWeksberg, Rosanna | |
| 700 | 1 | _aShuman, Cheryl | |
| 700 | 1 | _aCarew, Chris | |
| 700 | 1 | _aSzego, Michael J | |
| 700 | 1 | _aHayeems, Robin Z | |
| 700 | 1 | _aBasran, Raveen | |
| 700 | 1 | _aStavropoulos, Dimitri J | |
| 700 | 1 | _aRay, Peter N | |
| 700 | 1 | _aBowdin, Sarah | |
| 700 | 1 | _aMeyn, M Stephen | |
| 700 | 1 | _aCohn, Ronald D | |
| 700 | 1 | _aScherer, Stephen W | |
| 700 | 1 | _aMarshall, Christian R | |
| 773 | 0 |
_tGenetics in medicine : official journal of the American College of Medical Genetics _gvol. 20 _gno. 4 _gp. 435-443 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1038/gim.2017.119 _zAvailable from publisher's website |
| 999 |
_c27429416 _d27429416 |
||