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Three patients had a confirmed diagnosis of NP-C; two based on gene sequencing alone (two known causal disease alleles) and one based on gene sequencing and positive filipin staining.
Many more are in the pipeline, and Foundation Medicine is working on ways to better inform doctors and pharma companies as to how to target new drugs based on gene sequencing.
Two of three NP-C positive patients (#1 and 2) were diagnosed based on gene sequencing alone and had known disease-causing gene mutations on both NPC1 gene alleles (Table 1).
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The court's ruling is one of many signs that claims based on gene sequences are getting much tougher scrutiny now than in the past.
These so called alignment-free methods [21] are based on gene sequence word counts and have become increasingly popular since the computationally expensive sequence alignment method is avoided.
Classifying the genera of tribe Zonariae based on these morphological and anatomical characteristics is basically agreed to five clades in phylogenic analyses based on gene sequences.
Multiple crystal structures and molecular models based on gene sequences have been published for MnP and VP (e.g. Sundaramoorthy et al.1997 Sutherland et al.1997andMoreira et al.2005).2005
Seven new sets of consensual primers based on gene sequences of different bacteria were designed and used for detection of the speA, adiA, adi, speB, aguA, speC, and speF genes.
For the remaining 10 potential 'non- trans-spliced' genes, specific reverse primers were designed based on gene sequences reported previously [7], [9] using Beacon Designer 3.0 (PREMIER Biosoft) (Table 1).
In 2002, SVC was recorded in the USA, and that the viral pathogen SVCV was suggested to be linked with imported fish, likely from China, based on gene sequence analysis [11].
Besides bovine genes, we also retrieved the annotation based on gene sequences of the human ortholog in Ensembl.
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