Marjolein Kriek (born 22 November 1973) [1] is a Dutch clinical geneticist at the Leiden University Medical Center. In 2008, at age 34, she became the first woman and probably the first European to have her total DNA genome sequenced. [2] [3] [4] [5]
Leiden University announced the completion of the nine-month-long [4] sequencing of Dr. Kriek's genome on 26 May 2008, [3] [5] though the results of the study were published later. The study was initiated by Gert-Jan van Ommen of the LUMC team and director of the Center for Medical Systems Biology (CMSB), to gain insight in X-chromosome variability. The data set contained significant redundancy, as each base pair was sampled an average of seven to eight times. [3] [5] The sequencing has been performed in close collaboration with a spin-off company, 'ServiceXS'. [6]
At the time Dr. Kriek was one of five or six people to have their entire genome sequenced, the others being James D. Watson, Craig Venter, two Yoruba-African men [2] [3] and possibly Dan Stoicescu of Switzerland. [7]
Dr. Kriek was born in Leiden and obtained her doctorate in Biomedical Science at Leiden University in 2002. Her graduate studies included mutation screening in the mentally retarded. Dr. Kriek's subsequent research interests similarly focussed on the diagnosis and clinical significance of genomic imbalances and micro rearrangements as the causes of developmental delay, mental retardation and congenital syndromes. [1]
Bioinformatics is an interdisciplinary field that develops methods and software tools for understanding biological data, in particular when the data sets are large and complex. As an interdisciplinary field of science, bioinformatics combines biology, computer science, information engineering, mathematics and statistics to analyze and interpret the biological data. Bioinformatics has been used for in silico analyses of biological queries using mathematical and statistical techniques.
In genetics, shotgun sequencing is a method used for sequencing random DNA strands. It is named by analogy with the rapidly expanding, quasi-random firing pattern of a shotgun.
The human genome is a complete set of nucleic acid sequences for humans, encoded as DNA within the 23 chromosome pairs in cell nuclei and in a small DNA molecule found within individual mitochondria. These are usually treated separately as the nuclear genome, and the mitochondrial genome. Human genomes include both protein-coding DNA genes and noncoding DNA. Haploid human genomes, which are contained in germ cells consist of three billion DNA base pairs, while diploid genomes have twice the DNA content. While there are significant differences among the genomes of human individuals, these are considerably smaller than the differences between humans and their closest living relatives, the bonobos and chimpanzees.
Genomics is an interdisciplinary field of biology focusing on the structure, function, evolution, mapping, and editing of genomes. A genome is an organism's complete set of DNA, including all of its genes. In contrast to genetics, which refers to the study of individual genes and their roles in inheritance, genomics aims at the collective characterization and quantification of all of an organism's genes, their interrelations and influence on the organism. Genes may direct the production of proteins with the assistance of enzymes and messenger molecules. In turn, proteins make up body structures such as organs and tissues as well as control chemical reactions and carry signals between cells. Genomics also involves the sequencing and analysis of genomes through uses of high throughput DNA sequencing and bioinformatics to assemble and analyze the function and structure of entire genomes. Advances in genomics have triggered a revolution in discovery-based research and systems biology to facilitate understanding of even the most complex biological systems such as the brain.
Leroy "Lee" Edward Hood is an American biologist who has served on the faculties at the California Institute of Technology (Caltech) and the University of Washington. Hood has developed ground-breaking scientific instruments which made possible major advances in the biological sciences and the medical sciences. These include the first gas phase protein sequencer (1982), for determining the amino acids that make up a given protein; a DNA synthesizer (1983), to synthesize short sections of DNA; a peptide synthesizer (1984), to combine amino acids into longer peptides and short proteins; the first automated DNA sequencer (1986), to identify the order of nucleotides in DNA; ink-jet oligonucleotide technology for synthesizing DNA and nanostring technology for analyzing single molecules of DNA and RNA.
BGI, currently known as the BGI Group, formerly known as the Beijing Genomics Institute, is a Chinese genome sequencing company, headquartered in Shenzhen, Guangdong, China.
A single-nucleotide polymorphism is a substitution of a single nucleotide at a specific position in the genome, that is present in a sufficiently large fraction of the population.
Eric Steven Lander, a mathematician and geneticist, is a Professor of Biology at the Massachusetts Institute of Technology (MIT) and Professor of Systems Biology at Harvard Medical School, former member of the Whitehead Institute, and founding director of the Broad Institute of MIT and Harvard. He was co-chair of U.S. President Barack Obama's Council of Advisors on Science and Technology. He is a 1987 MacArthur Fellow.
DNA 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. The advent of rapid DNA sequencing methods has greatly accelerated biological and medical research and discovery.
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 and mapping all of the genes of the human genome from both a physical and a functional standpoint. It remains the world's largest collaborative biological project. Planning started after the idea was picked up in 1984 by the US government, the project formally launched in 1990, and was declared complete on April 14, 2003.
Erasmus University Medical Center based in Rotterdam, Netherlands, affiliated with Erasmus University and home to its faculty of medicine, is the "largest and one of the most authoritative scientific University Medical Centers in Europe." Furthermore, the hospital is the largest of the eight university medical centers in the Netherlands, both in terms of turnover and number of beds. The Erasmus MC ranks #1 of the top European institution in clinical medicine and #20 in the world according to the Times Higher Education rankings.
Personal genomics or consumer genetics is the branch of genomics concerned with the sequencing, analysis and interpretation of the genome of an individual. The genotyping stage employs different techniques, including single-nucleotide polymorphism (SNP) analysis chips, or partial or full genome sequencing. Once the genotypes are known, the individual's variations can be compared with the published literature to determine likelihood of trait expression, ancestry inference and disease risk.
Whole genome sequencing is ostensibly the process of determining the complete DNA sequence of an organism's genome at a single time. This entails sequencing all of an organism's chromosomal DNA as well as DNA contained in the mitochondria and, for plants, in the chloroplast. In practice, genome sequences that are nearly complete are also called whole genome sequences.
Kathleen Hallisey "Kate" Rubins is a NASA astronaut. She became the 60th woman to fly in space when she launched on a Soyuz spacecraft to the International Space Station on July 7, 2016. She returned to Earth on October 30, 2016, aboard a Soyuz. She was a crew member of Expedition 48/49, and is a crew member of Expedition 63/64 of the International Space Station.
SequenceVariantAnalyzer (SVA) is a computer program for annotating and analyzing genetic variants called (identified) from a whole genome or exome sequencing study.
Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome. It consists of two steps: the first step is to select only the subset of DNA that encodes proteins. These regions are known as exons – humans have about 180,000 exons, constituting about 1% of the human genome, or approximately 30 million base pairs. The second step is to sequence the exonic DNA using any high-throughput DNA sequencing technology.
The following events occurred in November 1973:
Robert Andrew Holt is a genomic scientist and immunogeneticist. He is currently a Distinguished Scientific at the BC Cancer Research Centre, where his also Co-Director of the BC Cancer Immunotherapy program. He is also appointed as Professor of Medical Genetics at the University of British Columbia and Professor of Molecular Biology & Biochemistry at Simon Fraser University. Through international consortia, he has had made several significant contributions to science. After initial sequencing of the Drosophila and human genomes was co-PI on the NIH program to sequence the rat genome, and was also a PI on the international effort to sequence the malaria mosquito genome, which involved >30 principal scientists from 11 different countries. With his publications exceeding over 200 and his citations being recorded approximately 70,000 times, Holt earned a position in the top 1% of Web of Science cited researchers by Clarivate Analytics in 2018 and 2019.
Robert Holt, is a genomic scientist and immunogeneticist. He is currently a Distinguished Scientific at the BC Cancer Research Centre, where he is also Co-Director of the BC Cancer Immunotherapy program. He is also appointed as Professor of Medical Genetics at the University of British Columbia and Professor of Molecular Biology & Biochemistry at Simon Fraser University. Through international consortia, he has had made several significant contributions to science. After initial sequencing of the Drosophila and human genomes was co-PI on the NIH program to sequence the rat genome, and was also a PI on the international effort to sequence the malaria mosquito genome, which involved >30 principal scientists from 11 different countries. With his publications exceeding over 200 and his citations being recorded approximately 70,000 times, Holt earned a position in the top 1% of Web of Science cited researchers by Clarivate Analytics in 2018 and 2019.
