Itsik Pe'er

Last updated
Itsik Pe'er
Alma mater Tel Aviv University
Scientific career
Fields Systems biology
Human Genetics
Computer Science
Institutions Columbia University
Broad Institute
Weizmann Institute of Science
Thesis Algorithmic Methods for Reconstruction of Biological Sequences, Gene Orders and Maps  (2002)
Doctoral advisor Ron Shamir

Itsik Pe'er is a computational biologist and a Full Professor in the Department of Computer Science at Columbia University.

Contents

Research and career

Pe'er has created computational tools for the analysis of high-throughput DNA sequence data. [1] In particular, he has developed an approach to map copy number variation from whole exome sequencing data. He has published approaches to quantify hidden relatedness and infer population structure using DNA data. [2] He has conducted studies on the genetics of complex traits in Ashkenazi Jews, historically a relatively isolated population [3] enabling identification of genetic risk factors for common disorders in all populations. [4] [5] He is generating a comprehensive resource of genetic variants in the population for precision public health. [6] [7]

Selected publications

Personal life

Itsik Pe'er is married to Dana Pe'er, a computational biologist at Sloan Kettering Institute. [8]

Related Research Articles

<span class="mw-page-title-main">Genomics</span> Discipline in genetics

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 as well as its hierarchical, three-dimensional structural configuration. 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.

<span class="mw-page-title-main">Ashkenazi Jews</span> Jewish diaspora of Central Europe

Ashkenazi Jews, also known as Ashkenazic Jews or Ashkenazim, are a Jewish diaspora population who coalesced in the Holy Roman Empire around the end of the first millennium CE. Their traditional diaspora language is Yiddish, which developed during the Middle Ages after they had moved from Germany and France into Northern Europe and Eastern Europe. For centuries, Ashkenazim in Europe used Hebrew only as a sacred language until the revival of Hebrew as a common language in 20th-century Israel.

<span class="mw-page-title-main">Comparative genomics</span>

Comparative genomics is a field of biological research in which the genomic features of different organisms are compared. The genomic features may include the DNA sequence, genes, gene order, regulatory sequences, and other genomic structural landmarks. In this branch of genomics, whole or large parts of genomes resulting from genome projects are compared to study basic biological similarities and differences as well as evolutionary relationships between organisms. The major principle of comparative genomics is that common features of two organisms will often be encoded within the DNA that is evolutionarily conserved between them. Therefore, comparative genomic approaches start with making some form of alignment of genome sequences and looking for orthologous sequences in the aligned genomes and checking to what extent those sequences are conserved. Based on these, genome and molecular evolution are inferred and this may in turn be put in the context of, for example, phenotypic evolution or population genetics.

Genetic genealogy is the use of genealogical DNA tests, i.e., DNA profiling and DNA testing, in combination with traditional genealogical methods, to infer genetic relationships between individuals. This application of genetics came to be used by family historians in the 21st century, as DNA tests became affordable. The tests have been promoted by amateur groups, such as surname study groups or regional genealogical groups, as well as research projects such as the Genographic Project.

Jewish ethnic divisions refer to many distinctive communities within the world's ethnically Jewish population. Although considered a self-identifying ethnicity, there are distinct ethnic subdivisions among Jews, most of which are primarily the result of geographic branching from an originating Israelite population, mixing with local communities, and subsequent independent evolutions.

Jewish population centers have shifted tremendously over time, due to the constant streams of Jewish refugees created by expulsions, persecution, and officially sanctioned killing of Jews in various places at various times. In addition, assimilation and forced conversions have also impacted Jewish population sizes throughout Jewish history.

<span class="mw-page-title-main">Identity by descent</span> Identical nucleotide sequence due to inheritance without recombination from a common ancestor

A DNA segment is identical by state (IBS) in two or more individuals if they have identical nucleotide sequences in this segment. An IBS segment is identical by descent (IBD) in two or more individuals if they have inherited it from a common ancestor without recombination, that is, the segment has the same ancestral origin in these individuals. DNA segments that are IBD are IBS per definition, but segments that are not IBD can still be IBS due to the same mutations in different individuals or recombinations that do not alter the segment.

Haplogroup K, formerly Haplogroup UK, is a human mitochondrial DNA (mtDNA) haplogroup. It is defined by the HVR1 mutations 16224C and 16311C. It is now known that K is a subclade of U8.

Haploview is a commonly used bioinformatics software which is designed to analyze and visualize patterns of linkage disequilibrium (LD) in genetic data. Haploview can also perform association studies, choosing tagSNPs and estimating haplotype frequencies. Haploview is developed and maintained by Dr. Mark Daly's lab at the MIT/Harvard Broad Institute.

dbSNP

The Single Nucleotide Polymorphism Database (dbSNP) is a free public archive for genetic variation within and across different species developed and hosted by the National Center for Biotechnology Information (NCBI) in collaboration with the National Human Genome Research Institute (NHGRI). Although the name of the database implies a collection of one class of polymorphisms only, it in fact contains a range of molecular variation: (1) SNPs, (2) short deletion and insertion polymorphisms (indels/DIPs), (3) microsatellite markers or short tandem repeats (STRs), (4) multinucleotide polymorphisms (MNPs), (5) heterozygous sequences, and (6) named variants. The dbSNP accepts apparently neutral polymorphisms, polymorphisms corresponding to known phenotypes, and regions of no variation. It was created in September 1998 to supplement GenBank, NCBI’s collection of publicly available nucleic acid and protein sequences.

The medical genetics of Jews have been studied to identify and prevent some rare genetic diseases that, while still rare, are more common than average among people of Jewish descent. There are several autosomal recessive genetic disorders that are more common than average in ethnically Jewish populations, particularly Ashkenazi Jews, because of relatively recent population bottlenecks and because of consanguineous marriage. These two phenomena reduce genetic diversity and raise the chance that two parents will carry a mutation in the same gene and pass on both mutations to a child.

<span class="mw-page-title-main">Alexander Beider</span>

Alexander Beider is the author of reference books in the field of Jewish onomastics and the linguistic history of Yiddish.

Genetic studies on Jews are part of the population genetics discipline and are used to analyze the chronology of Jewish migration accompanied by research in other fields, such as history, linguistics, archaeology, and paleontology. These studies investigate the origins of various Jewish ethnic divisions. In particular, they examine whether there is a common genetic heritage among them. The medical genetics of Jews are studied for population-specific diseases.

Nir Friedman is an Israeli Professor of Computer Science and Biology at the Hebrew University of Jerusalem.

Heng Li is a Chinese bioinformatics scientist. He is an associate professor at the department of Biomedical Informatics of Harvard Medical School and the department of Data Science of Dana-Farber Cancer Institute. He was previously a research scientist working at the Broad Institute in Cambridge, Massachusetts with David Reich and David Altshuler. Li's work has made several important contributions in the field of next generation sequencing.

<span class="mw-page-title-main">David Altshuler (physician)</span> American geneticist

David Matthew Altshuler is a clinical endocrinologist and human geneticist. He is Executive Vice President, Global Research and Chief Scientific Officer at Vertex Pharmaceuticals. Prior to joining Vertex in 2014, he was at the Broad Institute of Harvard and MIT, and was a Professor of Genetics and Medicine at Harvard Medical School, and in the Department of Biology at Massachusetts Institute of Technology. He was also a faculty member in the Department of Molecular Biology, Center for Human Genetic Research, and the Diabetes Unit, all at Massachusetts General Hospital. He was one of four Founding Core Members of the Broad Institute, and served as the Institute's Deputy Director, Chief Academic Officer, and Director of the Program in Medical and Population Genetics.

The Khazar hypothesis of Ashkenazi ancestry, often called the Khazar myth by its critics, is a largely abandoned historical hypothesis. The hypothesis postulated that Ashkenazi Jews were primarily, or to a large extent, descended from Khazars, a multi-ethnic conglomerate of mostly Turkic peoples who formed a semi-nomadic khanate in and around the northern and central Caucasus and the Pontic–Caspian steppe. The hypothesis also postulated that after collapse of the Khazar empire, the Khazars fled to Eastern Europe and made up a large part of the Jews there. The hypothesis draws on some medieval sources such as the Khazar Correspondence, according to which at some point in the 8th–9th centuries, a small number of Khazars were said by Judah Halevi and Abraham ibn Daud to have converted to Rabbinic Judaism. The scope of the conversion within the Khazar Khanate remains uncertain, but the evidence used to tie the Ashkenazi communities to the Khazars is meager and subject to conflicting interpretations.

<span class="mw-page-title-main">Dana Pe'er</span>

Dana Pe'er is an Israeli computational biologist and bioinformatician who is currently the Chair and Professor in Computational and Systems Biology Program at Sloan Kettering Institute, and regarded as one of the leading researchers in computational systems biology. She was selected as a Howard Hughes Medical Institute (HHMI) Investigator in September, 2021. Previously, she was a professor at Columbia Department of Biological Sciences. Pe'er's research focuses on understanding the organization, function and evolution of molecular networks, particularly how genetic variations alter the regulatory network and how these genetic variations can cause cancer.

Eran Elhaik is an Israeli-American geneticist and bioinformatician, and an associate professor of bioinformatics at Lund University in Sweden. His research uses computational, statistical, epidemiological and mathematical approaches to fields such as complex disorders, population genetics, personalised medicine, molecular evolution, genomics, paleogenomics and epigenetics.

Yaniv Erlich is an Israeli-American scientist. He is an Associate Professor of Computer Science at Columbia University and the Chief Science Officer of MyHeritage. Erlich's work combines computer science and genomics.

References

  1. "Itsik Pe'er publications indexed by Google Scholar". scholar.google.com. Retrieved 2022-01-02.
  2. "Inference of population structure from time-series genotype data". Banff International Research Station. Retrieved 2022-01-04.
  3. Bray SM, Mulle JG, Dodd AF, Pulver AE, Wooding S, Warren ST (September 2010). "Signatures of founder effects, admixture, and selection in the Ashkenazi Jewish population". Proceedings of the National Academy of Sciences. 107 (37): 16222–16227. Bibcode:2010PNAS..10716222B. doi: 10.1073/pnas.1004381107 . PMC   2941333 . PMID   20798349.
  4. "Itsik Pe'er - Overview". Columbia University. Retrieved 2022-01-03.
  5. Lencz T, Yu J, Palmer C, Carmi S, Ben-Avraham D, Barzilai N, Peer I (April 2018). "High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation". Human Genetics. 137 (4): 343–355. doi:10.1007/s00439-018-1886-z. PMC   6954822 . PMID   29705978.
  6. "Mapping the DNA sequence of Ashkenazi Jews". The Jerusalem Post. Retrieved 2022-01-03.
  7. "April 10 Provost's Lecture with Itsik Pe'er". Stony Brook University News. 27 March 2014. Retrieved 2022-01-03.
  8. "Columbia News - Dana Pe'er: Decoding Genetic Variations and Regulatory Networks" (PDF). www.columbia.edu. Retrieved 2022-01-04.