SnapShot: Human Biomedical Genomics
نویسندگان
چکیده
Single-nucleotide variation (SNV) When a single base pair (A, C, T, G) is observed to vary in a DNA sequence. This variant may be private to an individual or family. For biallelic SNVs (i.e., an SNV that exists in two possible states), an individual can carry three possible allelic combinations or genotypes on their two chromosomes (e.g., for a single base pair position that could be A or G, the three possible genotypes are AA, AG, or GG).
منابع مشابه
Proteomics Technologies and Challenges
Proteomics is the study of proteins and their interactions in a cell. With the completion of the Human Genome Project, the emphasis is shifting to the protein compliment of the human organism. Because proteome reflects more accurately on the dynamic state of a cell, tissue, or organism, much is expected from proteomics to yield better disease markers for diagnosis and therapy monitoring. The ad...
متن کاملA 2.5‐year snapshot of Mendelian discovery
A 2.5-year snapshot of Mendelian discovery Benjamin D. Solomon, Teresa Lee, Anh-Dao Nguyen & Tyra G. Wolfsberg Division of Medical Genomics, Inova Translational Medicine Institute, Inova Health Systems, Falls Church, Virginia 22042 Department of Pediatrics, Inova Children’s Hospital, Inova Health Systems, Falls Church, Virginia 22042 Department of Pediatrics, Virginia Commonwealth University Sc...
متن کاملIntroduction to a special series: What Makes Man Human
One of the most pressing and timely scientific questions concerns the evolution of man. In 1970, Karl Pribram delivered the James Arthur Lecture at the American Museum of Natural History in New York City. His lecture, "What Makes Man Human," was one of the most eloquent and brilliant syntheses of this problem ever made. The Journal is proud to publish this Lecture for the first time in an open ...
متن کاملA Roadmap to functional genomics.
In August 2006, the Center for Human Genomics of the Wake Forest University School of Medicine in Winston-Salem, NC, hosted the National Institutes of Health-sponsored Roadmap Course entitled Models and Technologies for Defining Phenotype. Twenty-four biomedical and genomic researchers from throughout the world and with varying degrees of experience in the genomics, biological, and biomedical e...
متن کاملThe Novel Coronavirus – A Snapshot of Current Knowledge
Another animal to human transmission of a coronavirus occurred in December 2019 on a live animal market in the Chinese city of Wuhan causing an epidemic in China, reaching now different continents. This minireview summarizes the research literature on the virological, clinical and epidemiological aspects of this epidemic published until end of February 2020.
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
- Cell
دوره 147 شماره
صفحات -
تاریخ انتشار 2011