000 01508 a2200457 4500
005 20250516222914.0
264 0 _c20150112
008 201501s 0 0 eng d
022 _a1546-1718
024 7 _a10.1038/ng.3036
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aRimmer, Andy
245 0 0 _aIntegrating mapping-, assembly- and haplotype-based approaches for calling variants in clinical sequencing applications.
_h[electronic resource]
260 _bNature genetics
_cAug 2014
300 _a912-918 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAlgorithms
650 0 4 _aChromosome Mapping
_xmethods
650 0 4 _aExome
650 0 4 _aGenome, Human
650 0 4 _aGenomic Structural Variation
650 0 4 _aGenotype
650 0 4 _aHLA Antigens
_xgenetics
650 0 4 _aHaplotypes
650 0 4 _aHigh-Throughput Nucleotide Sequencing
_xmethods
650 0 4 _aHumans
650 0 4 _aMutation
650 0 4 _aPolymorphism, Single Nucleotide
650 0 4 _aSensitivity and Specificity
650 0 4 _aSequence Analysis, DNA
_xmethods
650 0 4 _aSoftware
700 1 _aPhan, Hang
700 1 _aMathieson, Iain
700 1 _aIqbal, Zamin
700 1 _aTwigg, Stephen R F
700 1 _aWilkie, Andrew O M
700 1 _aMcVean, Gil
700 1 _aLunter, Gerton
773 0 _tNature genetics
_gvol. 46
_gno. 8
_gp. 912-918
856 4 0 _uhttps://doi.org/10.1038/ng.3036
_zAvailable from publisher's website
999 _c24002041
_d24002041