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本文引用的文献
1
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.
Nat Biotechnol. 2014 Jul;32(7):663-9. doi: 10.1038/nbt.2895. Epub 2014 May 18.
2
Filtering for compound heterozygous sequence variants in non-consanguineous pedigrees.
PLoS One. 2013 Aug 5;8(8):e70151. doi: 10.1371/journal.pone.0070151. Print 2013.
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Clinical analysis of genome next-generation sequencing data using the Omicia platform.
Expert Rev Mol Diagn. 2013 Jul;13(6):529-40. doi: 10.1586/14737159.2013.811907.
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VAAST 2.0: improved variant classification and disease-gene identification using a conservation-controlled amino acid substitution matrix.
Genet Epidemiol. 2013 Sep;37(6):622-34. doi: 10.1002/gepi.21743. Epub 2013 Jul 8.
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Sturge-Weber syndrome and port-wine stains caused by somatic mutation in GNAQ.
N Engl J Med. 2013 May 23;368(21):1971-9. doi: 10.1056/NEJMoa1213507. Epub 2013 May 8.
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Maternal coding variants in complement receptor 1 and spontaneous idiopathic preterm birth.
Hum Genet. 2013 Aug;132(8):935-42. doi: 10.1007/s00439-013-1304-5. Epub 2013 Apr 17.
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Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing.
Genome Med. 2013 Mar 27;5(3):28. doi: 10.1186/gm432. eCollection 2013.
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Genomic diversity and evolution of the head crest in the rock pigeon.
Science. 2013 Mar 1;339(6123):1063-7. doi: 10.1126/science.1230422. Epub 2013 Jan 31.
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A survey of tools for variant analysis of next-generation genome sequencing data.
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The UCSC Genome Browser database: extensions and updates 2013.
Nucleic Acids Res. 2013 Jan;41(Database issue):D64-9. doi: 10.1093/nar/gks1048. Epub 2012 Nov 15.
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