NCBI
dbSNP

dbVar ClinVar GaP PubMed Nucleotide Protein
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transparent GIF
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Method Detail
Submitter Method Handle: SI_EXO
Submitter Method ID: SI_EXOSEQ_1
Submitted method description:
PCR primers, designed to cover well-annotated human exons, are used to
amplify 48 DNA from the CEPH families. The products are sequenced
using both forward and reverse primers and the sequences are compared
to each other and the genomic reference using ExoTrace.
Exotrace identifies high-quality differences between the sequences,
identfying heterozygous sequences by comaparing the heights of the peaks
observed.
SNPs are classified according to the degree of supporting data available:
SHW2 All 3 possible genotypes seen in double stranded DNAs
SHW1 All 3 possible genotypes seen - one dependant on single stranded DNA
MHo2 Both possible homozygotes are seen in multiple double-stranded DNA
MHe2 One homozygote and the heterozygote are seen in multiple double-stranded DNA
SHo2 Both possible homozygotes are seen - one in only a single double-stranded DNA
SHe2 One homozygote and the heterozygote - one in only a single double-stranded DNA

This method was used in the following submission:

Submitter Handle Batch Type Submitter batch id Release build id
SI_EXO Assay SI_EXO_20060323 126
SI_EXO Assay SI_EXO_20060629 126
SI_EXO Assay SI_EXO_20061206 127
SI_EXO Assay SI_EXO_20070501 127
SI_EXO Assay SI_EXO_20070430 128