DNA: deoxyribonucleic acid is a molecule that carries the genetic instructions used in the growth, development, functioning and reproduction of all known living organisms and many viruses. DNA and ribonucleic acid (RNA) are nucleic acids; alongside proteins, lipids and complex carbohydrates (polysaccharides), they are one of the four major types of macromolecules that are essential for all known forms of life. Most DNA molecules consist of two biopolymer strands coiled around each other to form a double helix.
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With current NGS platforms, the boundaries of variant detection and gene content for genetic disease panels has been vastly expanded leading to increases in detection rates. However these pla...
Deep mutational scanning is a method that marries selection for protein function amongst a large library of protein variants with high-throughput DNA sequencing to measure the activity of hun...
I will discuss the use of genomic technologies - mostly ultrahigh-throughput DNA sequencing - to study normal human biology and to determine what goes wrong when we have disease. First I wil...
Cancer is complex, but recent findings are yielding a greater understanding of the disease. The tumor suppressor genes BRCA1 and BRCA2 are implicated in breast, ovarian, prostate, and other c...
Perhaps the greatest surprise of genetic studies of human disease is that 90% of top-scoring disease-associated loci lie outside protein-coding regions. This has increased the urgency of mapp...
The continued growth of DNA sequencing as a fundamental data output has driven the need for the ability to generate high quality data from an increasing breadth of diminishing primary sample...
Technological advances in high throughput, low cost DNA sequencing coupled with the availability of a high quality reference assembly allow us to interrogate the genome with greater precision...