User profiles for Peter H Sudmant
Peter H SudmantUniversity of California Berkeley Verified email at berkeley.edu Cited by 34149 |
[HTML][HTML] An integrated map of structural variation in 2,504 human genomes
Structural variants are implicated in numerous diseases and make up the majority of varying
nucleotides among human genomes. Here we describe an integrated set of eight structural …
nucleotides among human genomes. Here we describe an integrated set of eight structural …
The complete genome sequence of a Neanderthal from the Altai Mountains
We present a high-quality genome sequence of a Neanderthal woman from Siberia. We
show that her parents were related at the level of half-siblings and that mating among close …
show that her parents were related at the level of half-siblings and that mating among close …
A high-coverage genome sequence from an archaic Denisovan individual
We present a DNA library preparation method that has allowed us to reconstruct a high-coverage
(30×) genome sequence of a Denisovan, an extinct relative of Neandertals. The quality …
(30×) genome sequence of a Denisovan, an extinct relative of Neandertals. The quality …
Ancient human genomes suggest three ancestral populations for present-day Europeans
…, G Renaud, S Mallick, K Kirsanow, PH Sudmant… - Nature, 2014 - nature.com
We sequenced the genomes of a ∼7,000-year-old farmer from Germany and eight ∼8,000-year-old
hunter-gatherers from Luxembourg and Sweden. We analysed these and other …
hunter-gatherers from Luxembourg and Sweden. We analysed these and other …
[HTML][HTML] Great ape genetic diversity and population history
Most great ape genetic variation remains uncharacterized 1 , 2 ; however, its study is critical
for understanding population history 3 , 4 , 5 , 6 , recombination 7 , selection 8 and …
for understanding population history 3 , 4 , 5 , 6 , recombination 7 , selection 8 and …
Resolving the complexity of the human genome using single-molecule sequencing
The human genome is arguably the most complete mammalian reference assembly 1 , 2 , 3
, yet more than 160 euchromatic gaps remain 4 , 5 , 6 and aspects of its structural variation …
, yet more than 160 euchromatic gaps remain 4 , 5 , 6 and aspects of its structural variation …
Diversity of human copy number variation and multicopy genes
Copy number variants affect both disease and normal phenotypic variation, but those lying
within heavily duplicated, highly identical sequence have been difficult to assay. By analyzing …
within heavily duplicated, highly identical sequence have been difficult to assay. By analyzing …
Copy number variation detection and genotyping from exome sequence data
While exome sequencing is readily amenable to single-nucleotide variant discovery, the
sparse and nonuniform nature of the exome capture reaction has hindered exome-based …
sparse and nonuniform nature of the exome capture reaction has hindered exome-based …
[HTML][HTML] Evolution of human-specific neural SRGAP2 genes by incomplete segmental duplication
Gene duplication is an important source of phenotypic change and adaptive evolution. We
leverage a haploid hydatidiform mole to identify highly identical sequences missing from the …
leverage a haploid hydatidiform mole to identify highly identical sequences missing from the …
Global diversity, population stratification, and selection of human copy-number variation
INTRODUCTION Most studies of human genetic variation have focused on single-nucleotide
variants (SNVs). However, copy-number variants (CNVs) affect more base pairs of DNA …
variants (SNVs). However, copy-number variants (CNVs) affect more base pairs of DNA …