Genomics has been transformative to the study of human evolution and disease. With the dropping cost and increased availability of genome sequencing, it is now possible to probe the genetic mediators of human disease at an unprecedented level. My own research grew out of earlier work on the genomic signatures of natural selection in humans. As an undergraduate, I investigated the evidence for recent positive selection in large-scale genomic data, identifying pathways that appear to be targeted by evolution and prioritizing promising candidate variants for functional follow-up. In medical school, I turned my attention to applying tools in genomics and evolution to the study of human disease. In this thesis, I present the results of that work...
Cancer, a disease of the genome, is caused by a combination of germline predisposing variants and ac...
Increasingly available genomic sequencing data are exploited to identify genes and variants contribu...
Understanding how the DNA sequence influences gene expression across the different tissues of the hu...
The completion of the human genome sequence in 2003 clearly marked the beginning of a new era for bi...
AbstractThe completion of the human genome sequence in 2003 clearly marked the beginning of a new er...
Our improved understanding of cellular biology, and, in a larger sense, human variability, relies on...
In the first chapter of this dissertation, I summarize previously published findings from genome-wid...
A cancer genome carries the historic mutagenic activity that has occurred throughout the development...
Advances in sequencing technology have made it routine to determine all coding variation in an indiv...
Recent advances in sequencing technologies have led to the generation of vast amounts genetic variat...
Genomic sequence mutations can be pathogenic in both germline and somatic cells. Several authors hav...
Cancer research, like many areas of science, is adapting to a new era characterized by increasing qu...
Genomics is the study of all person’s genes including interactions of those genes with each other an...
Genome-wide association studies have failed to establish common variant risk for the majority of com...
YesThe revolution in Big Data has opened the gate for new research challenges in biomedical science....
Cancer, a disease of the genome, is caused by a combination of germline predisposing variants and ac...
Increasingly available genomic sequencing data are exploited to identify genes and variants contribu...
Understanding how the DNA sequence influences gene expression across the different tissues of the hu...
The completion of the human genome sequence in 2003 clearly marked the beginning of a new era for bi...
AbstractThe completion of the human genome sequence in 2003 clearly marked the beginning of a new er...
Our improved understanding of cellular biology, and, in a larger sense, human variability, relies on...
In the first chapter of this dissertation, I summarize previously published findings from genome-wid...
A cancer genome carries the historic mutagenic activity that has occurred throughout the development...
Advances in sequencing technology have made it routine to determine all coding variation in an indiv...
Recent advances in sequencing technologies have led to the generation of vast amounts genetic variat...
Genomic sequence mutations can be pathogenic in both germline and somatic cells. Several authors hav...
Cancer research, like many areas of science, is adapting to a new era characterized by increasing qu...
Genomics is the study of all person’s genes including interactions of those genes with each other an...
Genome-wide association studies have failed to establish common variant risk for the majority of com...
YesThe revolution in Big Data has opened the gate for new research challenges in biomedical science....
Cancer, a disease of the genome, is caused by a combination of germline predisposing variants and ac...
Increasingly available genomic sequencing data are exploited to identify genes and variants contribu...
Understanding how the DNA sequence influences gene expression across the different tissues of the hu...