… We ask for any gene G that carries a single mutation, what the probability p(S) is that the
mutation (and hence G) falls in S. We estimate p(S) by collapsing all recurrent hits to one, and …

Exome sequencing of 343 families, each with a single child on the autism spectrum and at
least one unaffected sibling, reveal de novo small indels and point substitutions, which come …

The 1000 Genomes Project (1kGP) is the largest fully open resource of whole-genome
sequencing (WGS) data consented for public distribution without access or use restrictions. The …

… Namely, P(G|R) = P(R|G) · P(G)/P(R) where the genotype G is a tuple of repeat sizes with
the number of entries equal to the ploidy of the chromosome containing the repeat. The …

Background Sacred lotus is a basal eudicot with agricultural, medicinal, cultural and religious
importance. It was domesticated in Asia about 7,000 years ago, and cultivated for its …

We present an open-source algorithm, Scalpel ( http://scalpel.sourceforge.net/ ), which combines
mapping and assembly for sensitive and specific discovery of insertions and deletions (…

The repetitive nature and complexity of some medically relevant genes poses a challenge
for their accurate analysis in a clinical setting. The Genome in a Bottle Consortium has …

Assessing the reproducibility, accuracy and utility of massively parallel DNA sequencing
platforms remains an ongoing challenge. Here the Association of Biomolecular Resource …

… g, GSEA results for the cell type signature gene sets. Twelve tests were performed. h, GSEA
… The ALS-associated G 4 C 2 hexanucleotide repeat expansion (HRE) is located between …

… Out of these 600 INDELs, 97 were covered with more than 1,000 reads in the previous MiSeq
data set reported by Narzisi et al. Hence, we only performed additional Miseq validation on …