The cellular and molecular landscapes of the developing human central nervous system

JC Silbereis, S Pochareddy, Y Zhu, M Li, N Sestan - Neuron, 2016 - cell.com
The human CNS follows a pattern of development typical of all mammals, but certain
neurodevelopmental features are highly derived. Building the human CNS requires the …

Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data

GM Cooper, J Shendure - Nature Reviews Genetics, 2011 - nature.com
Genome and exome sequencing yield extensive catalogues of human genetic variation.
However, pinpointing the few phenotypically causal variants among the many variants …

progressiveMauve: multiple genome alignment with gene gain, loss and rearrangement

AE Darling, B Mau, NT Perna - PloS one, 2010 - journals.plos.org
Background Multiple genome alignment remains a challenging problem. Effects of
recombination including rearrangement, segmental duplication, gain, and loss can create a …

Identifying a high fraction of the human genome to be under selective constraint using GERP++

EV Davydov, DL Goode, M Sirota… - PLoS computational …, 2010 - journals.plos.org
Computational efforts to identify functional elements within genomes leverage comparative
sequence information by looking for regions that exhibit evidence of selective constraint …

Detection of nonneutral substitution rates on mammalian phylogenies

KS Pollard, MJ Hubisz, KR Rosenbloom… - Genome …, 2010 - genome.cshlp.org
Methods for detecting nucleotide substitution rates that are faster or slower than expected
under neutral drift are widely used to identify candidate functional elements in genomic …

Identification of constrained sequence elements across 239 primate genomes

LFK Kuderna, JC Ulirsch, S Rashid, M Ameen… - Nature, 2024 - nature.com
Noncoding DNA is central to our understanding of human gene regulation and complex
diseases,, and measuring the evolutionary sequence constraint can establish the functional …

[HTML][HTML] Extrathymic generation of regulatory T cells in placental mammals mitigates maternal-fetal conflict

RM Samstein, SZ Josefowicz, A Arvey, PM Treuting… - Cell, 2012 - cell.com
Regulatory T (Treg) cells, whose differentiation and function are controlled by X
chromosome-encoded transcription factor Foxp3, are generated in the thymus (tTreg) and …

ChIP-seq accurately predicts tissue-specific activity of enhancers

A Visel, MJ Blow, Z Li, T Zhang, JA Akiyama, A Holt… - Nature, 2009 - nature.com
A major yet unresolved quest in decoding the human genome is the identification of the
regulatory sequences that control the spatial and temporal expression of genes. Distant …

Massively parallel functional dissection of mammalian enhancers in vivo

RP Patwardhan, JB Hiatt, DM Witten, MJ Kim… - Nature …, 2012 - nature.com
The functional consequences of genetic variation in mammalian regulatory elements are
poorly understood. We report the in vivo dissection of three mammalian enhancers at single …

EnsemblCompara GeneTrees: Complete, duplication-aware phylogenetic trees in vertebrates

AJ Vilella, J Severin, A Ureta-Vidal, L Heng… - Genome …, 2009 - genome.cshlp.org
We have developed a comprehensive gene orientated phylogenetic resource,
EnsemblCompara GeneTrees, based on a computational pipeline to handle clustering …