The Baylor College of Medicine

Human Genome The human genome is a complete set of nucleic acid sequences for humans, encoded as the DNA within each of the 23 distinct chromosomes in the cell nucleus. A small DNA molecule is found within individual Mitochondrial DNA, mitochondria. These ar ...

Sequencing Center (BCM-HGSC) was established by Richard A. Gibbs in 1996 when

Baylor College of Medicine The Baylor College of Medicine (BCM) is a private medical school in Houston, Texas, United States. Originally as the Baylor University College of Medicine from 1903 to 1969, the college became independent with the current name and has been se ...

was chosen as one of six worldwide sites to complete the final phase of the international

Human Genome Project The Human Genome Project (HGP) was an international scientific research project with the goal of determining the base pairs that make up human DNA, and of identifying, mapping and sequencing all of the genes of the human genome from both a ...

. Gibbs is the current director of the BCM-HGSC. It occupies more than , employing over 180 staff, and is one of three

National Institutes of Health The National Institutes of Health (NIH) is the primary agency of the United States government responsible for biomedical and public health research. It was founded in 1887 and is part of the United States Department of Health and Human Service ...

funded genome centers that were involved in the completion of the first human genome sequence. The BCM-HGSC contributed approximately 10 percent of the total project by sequencing chromosomes 3, 12 and X. The BCM-HGSC collaborated with researchers at the

U.S. Department of Energy The United States Department of Energy (DOE) is an executive department of the U.S. federal government that oversees U.S. national energy policy and energy production, the research and development of nuclear power, the military's nuclear we ...

Lawrence Berkeley National Laboratory Lawrence Berkeley National Laboratory (LBNL, Berkeley Lab) is a Federally funded research and development centers, federally funded research and development center in the Berkeley Hills, hills of Berkeley, California, United States. Established i ...

and

Celera Genomics Celera Corporation is a subsidiary of Quest Diagnostics which focuses on genetic sequencing and related technologies. It was founded in 1998 as a business unit of Applera, spun off into an independent company in 2008, and finally acquired by Que ...

to sequence the first species of fruit fly, ''

Drosophila melanogaster ''Drosophila melanogaster'' is a species of fly (an insect of the Order (biology), order Diptera) in the family Drosophilidae. The species is often referred to as the fruit fly or lesser fruit fly, or less commonly the "vinegar fly", "pomace fly" ...

''. The BCM-HGSC also completed the second species of fruit fly (''

Drosophila pseudoobscura ''Drosophila pseudoobscura'' is a species of Drosophilidae, fruit fly, used extensively in lab studies of speciation. It is native to western North America. In 2005, ''D. pseudoobscura'' was the second ''Drosophila'' species to have its genome ...

''), the honeybee (''

Apis mellifera The western honey bee or European honey bee (''Apis mellifera'') is the most common of the 7–12 species of honey bees worldwide. The genus name ''Apis'' is Latin for 'bee', and ''mellifera'' is the Latin for 'honey-bearing' or 'honey-carrying', ...

''), and led an international consortium to sequence the brown Norway rat. The BCM-HGSC subsequently sequenced and annotated the genome of the

cow Cattle (''Bos taurus'') are large, domesticated, bovid ungulates widely kept as livestock. They are prominent modern members of the subfamily Bovinae and the most widespread species of the genus '' Bos''. Mature female cattle are called co ...

(''Bos taurus''), the

sea urchin Sea urchins or urchins () are echinoderms in the class (biology), class Echinoidea. About 950 species live on the seabed, inhabiting all oceans and depth zones from the intertidal zone to deep seas of . They typically have a globular body cove ...

rhesus macaque The rhesus macaque (''Macaca mulatta''), colloquially rhesus monkey, is a species of Old World monkey. There are between six and nine recognised subspecies split between two groups, the Chinese-derived and the Indian-derived. Generally brown or g ...

tammar wallaby The tammar wallaby (''Notamacropus eugenii''), also known as the dama wallaby or darma wallaby, is a small macropod native to South and Western Australia. Though its geographical range has been severely reduced since European colonisation, the ...

, ''

Dictyostelium discoideum ''Dictyostelium discoideum'' is a species of soil-dwelling Amoeboid, amoeba belonging to the phylum Amoebozoa, infraphylum Mycetozoa. Commonly referred to as slime mold, ''D. discoideum'' is a eukaryote that transitions from a collection of unic ...

'', and a number of

bacteria Bacteria (; : bacterium) are ubiquitous, mostly free-living organisms often consisting of one Cell (biology), biological cell. They constitute a large domain (biology), domain of Prokaryote, prokaryotic microorganisms. Typically a few micr ...

that cause serious

infection An infection is the invasion of tissue (biology), tissues by pathogens, their multiplication, and the reaction of host (biology), host tissues to the infectious agent and the toxins they produce. An infectious disease, also known as a transmis ...

s (''

Rickettsia typhi ''Rickettsia typhi'' is a small, Aerobic organism, aerobic, obligate intracellular, rod shaped Gram-negative bacteria, gram negative bacterium. It belongs to the typhus group of the ''Rickettsia'' genus, along with Rickettsia prowazekii, ''R. prowa ...

'', ''

Enterococcus faecium ''Enterococcus faecium'' is a Gram-positive, gamma-hemolytic or non-hemolytic bacterium in the genus ''Enterococcus''. It can be commensal (innocuous, coexisting organism) in the gastrointestinal tract of humans and animals, but it may also be ...

'', '' Mannheimia haemolytica'', and ''

Fusobacterium nucleatum ''Fusobacterium nucleatum'' is a Gram-negative bacteria, Gram-negative, Anaerobic organism, anaerobic Bacteria, bacterium, Commensalism, commensal to the human oral cavity, that plays a role in periodontal disease. This organism is commonly reco ...

''). The BCM-HGSC was a major contributor to the Mammalian Gene Collection program, to sequence all human cDNAs, as well as the International Haplotype Mapping Project (

HapMap The International HapMap Project was an organization that aimed to develop a haplotype map (HapMap) of the human genome, to describe the common patterns of human genetic variation. HapMap is used to find genetic variants affecting health, diseas ...

). Other research within the BCM-HGSC includes new

molecular A molecule is a group of two or more atoms that are held together by attractive forces known as chemical bonds; depending on context, the term may or may not include ions that satisfy this criterion. In quantum physics, organic chemistry, ...

technologies for mapping and sequencing, novel chemistries for DNA tagging, instrumentation for

DNA Deoxyribonucleic acid (; DNA) is a polymer composed of two polynucleotide chains that coil around each other to form a double helix. The polymer carries genetic instructions for the development, functioning, growth and reproduction of al ...

manipulation, new computer programs for genomic data analysis, the genes expressed in

childhood leukemia Childhood leukemia is leukemia that occurs in a child and is a type of childhood cancer. Childhood leukemia is the most common childhood cancer, accounting for 29% of cancers in children aged 0–14 in 2018. There are multiple forms of leukemia th ...

s, the genomic differences that lead to evolutionary changes, the role of host genetic variation in the course of infectious disease, and the molecular basis of specific genetic diseases. The sequencing for the Drosophila Genetic Reference Panel (DGRP) was performed here. The DGRP is a collaborative effort started by

Trudy Mackay Trudy Frances Charlene Mackay (born 10 September 1952) is the director of Clemson University's Center for Human Genetics located on the campus of the Greenwood Genetic Center. She is recognized as one of the world's leading authorities on the g ...

to establish a common standard for ''

'' research. The HGSC has an active

bioinformatics Bioinformatics () is an interdisciplinary field of science that develops methods and Bioinformatics software, software tools for understanding biological data, especially when the data sets are large and complex. Bioinformatics uses biology, ...

program, with research projects involving biologists and computer scientists. Problems under study focus on developing tools for generating, manipulating, and analyzing genome data. The BCM-HGSC is also involved with the Human Heredity and Health in Africa (H3Africa) Consortium. This collaboration resulted in a major study led by Neil Hanchard in which

whole genome sequencing Whole genome sequencing (WGS), also known as full genome sequencing or just genome sequencing, is the process of determining the entirety of the DNA sequence of an organism's genome at a single time. This entails sequencing all of an organism's ...

was performed on 426 individuals from 50 ethnolinguistic groups across Africa.{{Cite journal, last1=Choudhury, first1=Ananyo, last2=Aron, first2=Shaun, last3=Botigué, first3=Laura R., last4=Sengupta, first4=Dhriti, last5=Botha, first5=Gerrit, last6=Bensellak, first6=Taoufik, last7=Wells, first7=Gordon, last8=Kumuthini, first8=Judit, last9=Shriner, first9=Daniel, last10=Fakim, first10=Yasmina J., last11=Ghoorah, first11=Anisah W., date=October 2020, title=High-depth African genomes inform human migration and health, journal=Nature, language=en, volume=586, issue=7831, pages=741–748, doi=10.1038/s41586-020-2859-7, pmid=33116287, pmc=7759466, issn=1476-4687, doi-access=free As part of this study, more than 3 million previously un-described variants were uncovered.

References

* Human genome projects