Going the distance: human population genetics in a clinal world
Global human genetic variation is greatly influenced by geography, with genetic differentiation
between populations increasing with geographic distance and within-population diversity …
between populations increasing with geographic distance and within-population diversity …
Evolutionary strata on the chicken Z chromosome: implications for sex chromosome evolution
LJL Handley, H Ceplitis, H Ellegren - Genetics, 2004 - academic.oup.com
The human X chromosome exhibits four “evolutionary strata,” interpreted to represent distinct
steps in the process whereby recombination became arrested between the proto X and …
steps in the process whereby recombination became arrested between the proto X and …
[PDF][PDF] MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome
…, R Hamid, NA Hanchard, LH Handley… - The American Journal of …, 2017 - cell.com
One major challenge encountered with interpreting human genetic variants is the limited
understanding of the functional impact of genetic alterations on biological processes. …
understanding of the functional impact of genetic alterations on biological processes. …
Climate shaped the worldwide distribution of human mitochondrial DNA sequence variation
There is an ongoing discussion in the literature on whether human mitochondrial DNA (mtDNA)
evolves neutrally. There have been previous claims for natural selection on human …
evolves neutrally. There have been previous claims for natural selection on human …
[PDF][PDF] The undiagnosed diseases network: accelerating discovery about health and disease
…, M Haendel, NA Hanchard, LH Handley… - The American Journal of …, 2017 - cell.com
Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-disciplinary,
and collaborative in unprecedented ways. Exact disease recognition, an element of …
and collaborative in unprecedented ways. Exact disease recognition, an element of …
[PDF][PDF] A syndromic neurodevelopmental disorder caused by de novo variants in EBF3
…, R Hamid, NA Hanchard, LH Handley… - The American Journal of …, 2017 - cell.com
Early B cell factor 3 (EBF3) is a member of the highly evolutionarily conserved Collier/Olf/EBF
(COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals …
(COE) family of transcription factors. Prior studies on invertebrate and vertebrate animals …
Environmental DNA (eDNA) metabarcoding of pond water as a tool to survey conservation and management priority mammals
Environmental DNA (eDNA) metabarcoding can identify terrestrial taxa utilising aquatic habitats
alongside aquatic communities, but terrestrial species' eDNA dynamics are understudied…
alongside aquatic communities, but terrestrial species' eDNA dynamics are understudied…
Read counts from environmental DNA (eDNA) metabarcoding reflect fish abundance and biomass in drained ponds
The sampling of environmental DNA (eDNA) coupled with cost-efficient and ever-advancing
sequencing technology is propelling changes in biodiversity monitoring within aquatic …
sequencing technology is propelling changes in biodiversity monitoring within aquatic …
[PDF][PDF] IRF2BPL is associated with neurological phenotypes
…, R Hamid, NA Hanchard, LH Handley… - The American Journal of …, 2018 - cell.com
Interferon regulatory factor 2 binding protein-like (IRF2BPL) encodes a member of the IRF2BP
family of transcriptional regulators. Currently the biological function of this gene is obscure…
family of transcriptional regulators. Currently the biological function of this gene is obscure…
[HTML][HTML] A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
Purpose Sixty to seventy-five percent of individuals with rare and undiagnosed phenotypes
remain undiagnosed after exome sequencing (ES). With standard ES reanalysis resolving 10…
remain undiagnosed after exome sequencing (ES). With standard ES reanalysis resolving 10…