| 000 | 01584 a2200457 4500 | ||
|---|---|---|---|
| 005 | 20250516143215.0 | ||
| 264 | 0 | _c20140127 | |
| 008 | 201401s 0 0 eng d | ||
| 022 | _a1098-1004 | ||
| 024 | 7 |
_a10.1002/humu.22322 _2doi |
|
| 040 |
_aNLM _beng _cNLM |
||
| 100 | 1 | _aCarr, Ian M | |
| 245 | 0 | 0 |
_aSimple and efficient identification of rare recessive pathologically important sequence variants from next generation exome sequence data. _h[electronic resource] |
| 260 |
_bHuman mutation _cJul 2013 |
||
| 300 |
_a945-52 p. _bdigital |
||
| 500 | _aPublication Type: Evaluation Study; Journal Article; Research Support, Non-U.S. Gov't | ||
| 650 | 0 | 4 |
_aComputational Biology _xmethods |
| 650 | 0 | 4 |
_aExome _xgenetics |
| 650 | 0 | 4 | _aGenetic Predisposition to Disease |
| 650 | 0 | 4 | _aGenetic Variation |
| 650 | 0 | 4 |
_aGenome, Human _xgenetics |
| 650 | 0 | 4 | _aHumans |
| 650 | 0 | 4 |
_aPolymorphism, Single Nucleotide _xgenetics |
| 650 | 0 | 4 |
_aSequence Analysis, DNA _xmethods |
| 650 | 0 | 4 | _aSoftware |
| 700 | 1 | _aMorgan, Joanne | |
| 700 | 1 | _aWatson, Christopher | |
| 700 | 1 | _aMelnik, Svitlana | |
| 700 | 1 | _aDiggle, Christine P | |
| 700 | 1 | _aLogan, Clare V | |
| 700 | 1 | _aHarrison, Sally M | |
| 700 | 1 | _aTaylor, Graham R | |
| 700 | 1 | _aPena, Sergio D J | |
| 700 | 1 | _aMarkham, Alexander F | |
| 700 | 1 | _aAlkuraya, Fowzan S | |
| 700 | 1 | _aBlack, Graeme C M | |
| 700 | 1 | _aAli, Manir | |
| 700 | 1 | _aBonthron, David T | |
| 773 | 0 |
_tHuman mutation _gvol. 34 _gno. 7 _gp. 945-52 |
|
| 856 | 4 | 0 |
_uhttps://doi.org/10.1002/humu.22322 _zAvailable from publisher's website |
| 999 |
_c22638837 _d22638837 |
||