Krishna Pant

TL;DR: A genome sequencing platform that achieves efficient imaging and low reagent consumption with combinatorial probe anchor ligation chemistry to independently assay each base from patterned nanoarrays of self-assembling DNA nanoballs is described.

TL;DR: Family-based genome analysis enabled us to narrow the candidate genes for both of these Mendelian disorders to only four and demonstrate the value of complete genome sequencing in families.

TL;DR: A low-cost DNA sequencing and haplotyping process, long fragment read (LFR) technology, which is similar to sequencing long single DNA molecules without cloning or separation of metaphase chromosomes is described.

TL;DR: Novel computational methods developed for accurate calling of SNPs and short substitutions and indels (<100 bp) are described and the same methods apply to evaluation of hypothesized larger, structural variations.

TL;DR: In this paper, the copy number of a genomic region at a detection position of a target sequence in a sample is disclosed, and a total copy number value and region-specific copy number values for a plurality of regions are then estimated.