Sequencing: is the process of determining the nucleic acid sequence - the order of nucleotides in DNA. It includes any method or technology that is used to determine the order of the four bases: adenine, guanine, cytosine, and thymine.
-
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...
The next generation sequencing market has been experiencing rapid advancements over the past several years. While this makes for an exciting time in the field of genomics, it can be difficult...
I will present new insights into how multiomics profiling can be used to analyze and provide new insights into two complexes diseases, type 2 diabetes and autism....
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...
There is tremendous sexual dimorphism in human genetic disease susceptibility, progression, and drug response. It is thus alarming that most genome-wide association studies exclude the most s...
Long noncoding RNAs (lncRNAs) are increasingly recognized as having key regulatory roles in development and disease. However, these regulatory molecules often have short half lives and are ex...
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...