170 search results - page 6 / 34 » Genome variation discovery with high-throughput sequencing d... |
BMCBI
2008
14 years 9 months ago
2008
Background: Single nucleotide polymorphisms (SNPs) are the most commonly studied units of genetic variation. The discovery of such variation may help to identify causative gene mu...
108
click to vote
RECOMB
2002
Springer
15 years 9 months ago
2002
Springer
We present an original approach to identifying sequence variants in a mixed DNA population from sequence trace data. The heart of the method is based on parsimony: given a wildtyp...
101
click to vote
BMCBI
2010
14 years 9 months ago
2010
Background: Massively parallel sequencing readouts of epigenomic assays are enabling integrative genome-wide analyses of genomic and epigenomic variation. Pash 3.0 performs sequen...
BMCBI
2010
14 years 9 months ago
2010
Background: Recent studies have shown that copy number variations (CNVs) are frequent in higher eukaryotes and associated with a substantial portion of inherited and acquired risk...
PSB
2004
14 years 11 months ago
2004
This paper introduces the first integrated algorithm designed to discover novel motifs in heterogeneous sequence data, which is comprised of coregulated genes from a single genome...