User profiles for Shilpa Garg
Shilpa GargTechnical University of Denmark Verified email at biosustain.dtu.dk Cited by 5990 |
[HTML][HTML] Chromosome-scale, haplotype-resolved assembly of human genomes
Haplotype-resolved or phased genome assembly provides a complete picture of genomes
and their complex genetic variations. However, current algorithms for phased assembly either …
and their complex genetic variations. However, current algorithms for phased assembly either …
Variation graph toolkit improves read mapping by representing genetic variation in the reference
Reference genomes guide our interpretation of DNA sequence data. However, conventional
linear references represent only one version of each locus, ignoring variation in the …
linear references represent only one version of each locus, ignoring variation in the …
A robust benchmark for detection of germline large deletions and insertions
New technologies and analysis methods are enabling genomic structural variants (SVs) to
be detected with ever-increasing accuracy, resolution and comprehensiveness. To help …
be detected with ever-increasing accuracy, resolution and comprehensiveness. To help …
[HTML][HTML] Computational methods for chromosome-scale haplotype reconstruction
S Garg - Genome biology, 2021 - Springer
High-quality chromosome-scale haplotype sequences of diploid genomes, polyploid
genomes, and metagenomes provide important insights into genetic variation associated with …
genomes, and metagenomes provide important insights into genetic variation associated with …
Gaps and complex structurally variant loci in phased genome assemblies
There has been tremendous progress in phased genome assembly production by combining
long-read data with parental information or linked-read data. Nevertheless, a typical …
long-read data with parental information or linked-read data. Nevertheless, a typical …
[HTML][HTML] Semi-automated assembly of high-quality diploid human reference genomes
The current human reference genome, GRCh38, represents over 20 years of effort to generate
a high-quality assembly, which has benefitted society 1 , 2 . However, it still has many …
a high-quality assembly, which has benefitted society 1 , 2 . However, it still has many …
Pangenome graphs
Low-cost whole-genome assembly has enabled the collection of haplotype-resolved
pangenomes for numerous organisms. In turn, this technological change is encouraging the …
pangenomes for numerous organisms. In turn, this technological change is encouraging the …
[HTML][HTML] A draft human pangenome reference
Here the Human Pangenome Reference Consortium presents a first draft of the human
pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of …
pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of …
WhatsHap: fast and accurate read-based phasing
Read-based phasing allows to reconstruct the haplotype structure of a sample purely from
sequencing reads. While phasing is a required step for answering questions about population …
sequencing reads. While phasing is a required step for answering questions about population …
[HTML][HTML] Periorbital hyperpigmentation: a comprehensive review
R Sarkar, R Ranjan, S Garg, VK Garg… - The Journal of clinical …, 2016 - ncbi.nlm.nih.gov
Periorbital hyperpigmentation is a commonly encountered condition. There is very little scientific
data available on the clinical profile and pathogenesis of periorbital hyperpigmentation. …
data available on the clinical profile and pathogenesis of periorbital hyperpigmentation. …