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21
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Introduction
Skills and Expertise
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August 2010 - May 2015
Publications
Publications (21)
Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is a common, severe craniofacial malformation that imposes significant medical, psychosocial, and financial burdens. NSCL/P is a multifactorial disorder with genetic and environmental factors playing etiologic roles. Currently, only 25% of the genetic variation underlying NSCL/P has been...
Pancreatic cancer is a deadly disease that accounts for approximately 5% of cancer deaths worldwide, with a dismal 5-year survival rate of 10%. Known genetic risk factors explain only a modest proportion of the heritable risk of pancreatic cancer. We conducted a whole-exome case-control sequencing study in 1,591 pancreatic cancer cases and 2,134 ca...
Birds and other vertebrates display stunning variation in pigmentation patterning, yet the genes controlling this diversity remain largely unknown. Rock pigeons (Columba livia) are fundamentally one of four color pattern phenotypes, in decreasing order of melanism: T-check, checker, bar (ancestral), or barless. Using whole-genome scans, we identifi...
qRT-PCR source data represented in Figure 3A, and Figure 3—figure supplement 1.
Allele-specific expression assays source data represented in Figure 3B and Figure 3—figure supplement 3.
Numbers of SNPs between different pairwise combinations of homozygous bar, checker, and C. guinea represented in Figure 5C.
VISTA and REPTILE enhancer mapping hits on Scaffold 68.
Genotypes in the candidate region of individual birds in an F2 cross of domestic pigeons used to estimate recombination frequency.
Taqman copy number assay and phenotype quantification results represented in Figure 2C.
Primer sequences used in this study.
Combinations of bar and checker bird identifiers used to generate whole-genome D-statistics.
Taqman copy number assay results represented in Figure 2B.
Birds and other vertebrates display stunning variation in pigmentation patterning, yet the genes controlling this diversity remain largely unknown. Rock pigeons ( Columba livia ) are fundamentally one of four color pattern phenotypes, in decreasing order of melanism: T-check, checker, bar (ancestral), or barless. Using whole-genome scans, we identi...
High-throughput sequencing data are increasingly being made available to the research community for secondary analyses, providing new opportunities for large-scale association studies. However, heterogeneity in target capture and sequencing technologies often introduce strong technological stratification biases that overwhelm subtle signals of asso...
Extensive DNA sequence data have made it possible to reconstruct human evolutionary history in unprecedented detail. We introduce a method to study the past several hundred thousand years. Our results show that (i) the Neanderthal–Denisovan lineage declined to a small size just after separating from the modern lineage, (ii) Neanderthals and Denisov...
Kachel et al . [[1][1]] conclude from simulations of their agent-based model that fitness benefits from helpful grandmothers do not select for increased longevity. We studied their assumptions and model, ran further simulations and found flaws that are fatal to their test.
Here, we explain four
