Evolutionary and biomedical insights from the rhesus macaque genome

…, T Wylie, L Zhang, E Birney, K Han, MK Konkel… - …, 2007 - science.sciencemag.org
The rhesus macaque (Macaca mulatta) is an abundant primate species that diverged from
the ancestors of Homo sapiens about 25 million years ago. Because they are genetically
and physiologically similar to humans, rhesus monkeys are the most widely used nonhuman

[HTML][HTML] Mapping copy number variation by population scale genome sequencing

…, LM Iakoucheva, Z Iqbal, S Kang, JM Kidd, MK Konkel… - Nature, 2011 - ncbi.nlm.nih.gov
Summary Genomic structural variants (SVs) are abundant in humans, differing from other
variation classes in extent, origin, and functional impact. Despite progress in SV
characterization, the nucleotide resolution architecture of most SVs remains unknown. We

[HTML][HTML] The genome of a songbird

…, T Olender, D Lancet, AFA Smit, R Hubley, MK Konkel… - Nature, 2010 - ncbi.nlm.nih.gov
Abstract The zebra finch is an important model organism in several fields 1, 2 with unique
relevance to human neuroscience 3, 4. Like other songbirds, the zebra finch communicates
through learned vocalizations, an ability otherwise documented only in humans and a few

[HTML][HTML] Genome analysis of the platypus reveals unique signatures of evolution

…, P Temple-Smith, MA Batzer, JA Walker, MK Konkel… - Nature, 2008 - ncbi.nlm.nih.gov
Abstract We present a draft genome sequence of the platypus, Ornithorhynchus anatinus.
This monotreme exhibits a fascinating combination of reptilian and mammalian characters.
For example, platypuses have a coat of fur adapted to an aquatic lifestyle; platypus females

[HTML][HTML] Comparative and demographic analysis of orangutan genomes

…, G Della Valle, S Purgato, M Rocchi, MK Konkel… - Nature, 2011 - ncbi.nlm.nih.gov
Abstract “Orangutan” is derived from the Malay term “man of the forest” and aptly describes
the Southeast Asian great apes native to Sumatra and Borneo. The orangutan species,
Pongo abelii (Sumatran) and Pongo pygmaeus (Bornean), are the most phylogenetically

[HTML][HTML] An integrated map of structural variation in 2,504 human genomes

…, Y Zhang, K Ye, G Jun, MHY Fritz, MK Konkel… - Nature, 2015 - ncbi.nlm.nih.gov
Summary Structural variants (SVs) are implicated in numerous diseases and make up the
majority of varying nucleotides among human genomes. Here we describe an integrated set
of eight SV classes comprising both balanced and unbalanced variants, which we

Demographic history and rare allele sharing among human populations

…, L Ambrogio, T Bloom, K Cibulskis… - Proceedings of the …, 2011 - National Acad Sciences
Abstract High-throughput sequencing technology enables population-level surveys of
human genomic variation. Here, we examine the joint allele frequency distributions across
continental human populations and present an approach for combining complementary

[HTML][HTML] A comprehensive map of mobile element insertion polymorphisms in humans

…, D Kural, MP Strömberg, JA Walker, MK Konkel… - PLoS …, 2011 - journals.plos.org
Abstract As a consequence of the accumulation of insertion events over evolutionary time,
mobile elements now comprise nearly half of the human genome. The Alu, L1, and SVA
mobile element families are still duplicating, generating variation between individual

[HTML][HTML] Gibbon genome and the fast karyotype evolution of small apes

…, LM Johnstone, A Karimpour-Fard, MK Konkel… - Nature, 2014 - ncbi.nlm.nih.gov
Abstract Gibbons are small arboreal apes that display an accelerated rate of evolutionary
chromosomal rearrangement and occupy a key node in the primate phylogeny between Old
World monkeys and great apes. Here we present the assembly and analysis of a northern

A mobile threat to genome stability: The impact of non-LTR retrotransposons upon the human genome

MK Konkel, MA Batzer - Seminars in cancer biology, 2010 - Elsevier
It is now commonly agreed that the human genome is not the stable entity originally
presumed. Deletions, duplications, inversions, and insertions are common, and contribute
significantly to genomic structural variations (SVs). Their collective impact generates much of