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Author: Stephen E Lincoln

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  • All-time downloads: 7,178 (rank: 31,466 (tie) )
  • Categories:
    • genetic and genomic medicine: 676 (rank: 4,564 (tie) )
    • genetics: 5,596 (rank: 3,586 (tie) )
    • genomics: 906 (rank: 25,546 (tie) )

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Preprints

An interlaboratory study of complex variant detection

genetics more details view paper
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    • In genetics: 99
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    • Site-wide: 31,600

A Rigorous Interlaboratory Examination of the Need to Confirm NGS-Detected Variants by an Orthogonal Method in Clinical Genetic Testing

genetics more details view paper
  • Downloaded 1,352 times
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    • Site-wide: 15,297
    • In genetics: 712
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    • Site-wide: 76,037
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    • Site-wide: 79,530

Towards a Comprehensive Variation Benchmark for Challenging Medically-Relevant Autosomal Genes

genomics more details view paper
  • Downloaded 906 times
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    • Site-wide: 27,504
    • In genomics: 2,512
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    • Site-wide: 3,235
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    • Site-wide: 447

One in seven pathogenic variants can be challenging to detect by NGS: An analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation

genetic and genomic medicine more details view paper
  • Downloaded 676 times
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    • Site-wide: 41,268
    • In genetic and genomic medicine: 160
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