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- #BENTLEY BX 11 MANUAL MANUAL#
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We analyzed exome sequence data from 118 individuals in 29 families seen in the NIH Undiagnosed Diseases Program (UDP) to create lists of variants and genes with these characteristics. Identification of disease-causing mutations requires sifting through a large number of sequence variants.Ī subset of the variants are unlikely to be good candidates for disease causation based on one or more of the following criteria: (1) being located in genomic regions known to be highly polymorphic, (2) having characteristics suggesting assembly misalignment, and/or (3) being labeled as variants based on misleading reference genome information. The hominid specific SINE-VNTR-Alus are the youngest of these elements constituting 0.13% of the genome they are therefore a practical and amenable group for analysis of both their global.ĭisease gene discovery has been transformed by affordable sequencing of exomes and genomes. Retrotransposons are a major component of the human genome constituting as much as 45%.
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