| 1. |
- Lazaridis, Iosif, et al.
(författare)
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Ancient human genomes suggest three ancestral populations for present-day Europeans
- 2014
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 513:7518, s. 409-
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Tidskriftsartikel (refereegranskat)abstract
- We sequenced the genomes of a similar to 7,000-year-old farmer from Germany and eight similar to 8,000-year-old hunter-gatherers from Luxembourg and Sweden. We analysed these and other ancient genomes(1-4) with 2,345 contemporary humans to show that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians(3), who contributed to both Europeans and Near Easterners; and early European farmers, who were mainly of Near Eastern origin but also harboured west European hunter-gatherer related ancestry. We model these populations' deep relationships and show that early European farmers had similar to 44% ancestry from a 'basal Eurasian' population that split before the diversification of other non-African lineages.
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| 2. |
- Warren, Wesley C, et al.
(författare)
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The genome of a songbird
- 2010
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Ingår i: Nature. - : Springer Science and Business Media LLC. - 0028-0836 .- 1476-4687. ; 464:7289, s. 757-762
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Tidskriftsartikel (refereegranskat)abstract
- The zebra finch is an important model organism in several fields with unique relevance to human neuroscience. Like other songbirds, the zebra finch communicates through learned vocalizations, an ability otherwise documented only in humans and a few other animals and lacking in the chicken-the only bird with a sequenced genome until now. Here we present a structural, functional and comparative analysis of the genome sequence of the zebra finch (Taeniopygia guttata), which is a songbird belonging to the large avian order Passeriformes. We find that the overall structures of the genomes are similar in zebra finch and chicken, but they differ in many intrachromosomal rearrangements, lineage-specific gene family expansions, the number of long-terminal-repeat-based retrotransposons, and mechanisms of sex chromosome dosage compensation. We show that song behaviour engages gene regulatory networks in the zebra finch brain, altering the expression of long non-coding RNAs, microRNAs, transcription factors and their targets. We also show evidence for rapid molecular evolution in the songbird lineage of genes that are regulated during song experience. These results indicate an active involvement of the genome in neural processes underlying vocal communication and identify potential genetic substrates for the evolution and regulation of this behaviour.
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| 3. |
- Miller, David T., et al.
(författare)
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Consensus Statement : Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies
- 2010
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Ingår i: American Journal of Human Genetics. - : Elsevier BV. - 0002-9297 .- 1537-6605. ; 86:5, s. 749-764
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Tidskriftsartikel (refereegranskat)abstract
- Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA). Performing CMA and G-banded karyotyping on every patient substantially increases the total cost of genetic testing. The International Standard Cytogenomic Array (ISCA) Consortium held two international workshops and conducted a literature review of 33 studies, including 21,698 patients tested by CMA. We provide an evidence-based summary of clinical cytogenetic testing comparing CMA to G-banded karyotyping with respect to technical advantages and limitations, diagnostic yield for various types of chromosomal aberrations, and issues that affect test interpretation. CMA offers a much higher diagnostic yield (15%-20%) for genetic testing of individuals with unexplained DD/ID, ASD, or MCA than a G-banded karyotype (similar to 3%, excluding Down syndrome and other recognizable chromosomal syndromes), primarily because of its higher sensitivity for submicroscopic deletions and duplications. Truly balanced rearrangements and low-level mosaicism are generally not detectable by arrays, but these are relatively infrequent causes of abnormal phenotypes in this population (<1%). Available evidence strongly supports the use of CMA in place of G-banded karyotyping as the first-tier cytogenetic diagnostic test for patients with DD/ID, ASD, or MCA. G-banded karyotype analysis should be reserved for patients with obvious chromosomal syndromes (e.g., Down syndrome), a family history of chromosomal rearrangement, or a history of multiple miscarriages.
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| 4. |
- Ando, Shin'ichiro, et al.
(författare)
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Colloquium : Multimessenger astronomy with gravitational waves and high-energy neutrinos
- 2013
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Ingår i: Reviews of Modern Physics. - 0034-6861 .- 1539-0756. ; 85:4, s. 1401-1420
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Tidskriftsartikel (refereegranskat)abstract
- Many of the astrophysical sources and violent phenomena observed in our Universe are potential emitters of gravitational waves and high-energy cosmic radiation, including photons, hadrons, and presumably also neutrinos. Both gravitational waves (GW) and high-energy neutrinos (HEN) are cosmic messengers that may escape much denser media than photons. They travel unaffected over cosmological distances, carrying information from the inner regions of the astrophysical engines from which they are emitted (and from which photons and charged cosmic rays cannot reach us). For the same reasons, such messengers could also reveal new, hidden sources that have not been observed by conventional photon-based astronomy. Coincident observation of GWs and HENs may thus play a critical role in multimessenger astronomy. This is particularly true at the present time owing to the advent of a new generation of dedicated detectors: the neutrino telescopes IceCube at the South Pole and ANTARES in the Mediterranean Sea, as well as the GW interferometers Virgo in Italy and LIGO in the United States. Starting from 2007, several periods of concomitant data taking involving these detectors have been conducted. More joint data sets are expected with the next generation of advanced detectors that are to be operational by 2015, with other detectors, such as KAGRA in Japan, joining in the future. Combining information from these independent detectors can provide original ways of constraining the physical processes driving the sources and also help confirm the astrophysical origin of a GW or HEN signal in case of coincident observation. Given the complexity of the instruments, a successful joint analysis of this combined GW and HEN observational data set will be possible only if the expertise and knowledge of the data is shared between the two communities. This Colloquium aims at providing an overview of both theoretical and experimental state of the art and perspectives for GW and HEN multimessenger astronomy.
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| 5. |
- Rogachevskii, Igor, et al.
(författare)
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COSMIC-RAY CURRENT-DRIVEN TURBULENCE AND MEAN-FIELD DYNAMO EFFECT
- 2012
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Ingår i: Astrophysical Journal. - 0004-637X .- 1538-4357. ; 753:1
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Tidskriftsartikel (refereegranskat)abstract
- We show that an a effect is driven by the cosmic-ray (CR) Bell instability exciting left-right asymmetric turbulence. Alfven waves of a preferred polarization have maximally helical motion, because the transverse motion of each mode is parallel to its curl. We show how large-scale Alfven modes, when rendered unstable by CR streaming, can create new net flux over any finite region, in the direction of the original large-scale field. We perform direct numerical simulations (DNSs) of a magnetohydrodynamic fluid with a forced CR current and use the test-field method to determine the alpha effect and the turbulent magnetic diffusivity. As follows from DNS, the dynamics of the instability has the following stages: (1) in the early stage, the small-scale Bell instability that results in the production of small-scale turbulence is excited; (2) in the intermediate stage, there is formation of larger-scale magnetic structures; (3) finally, quasi-stationary large-scale turbulence is formed at a growth rate that is comparable to that expected from the dynamo instability, but its amplitude over much longer timescales remains unclear. The results of DNS are in good agreement with the theoretical estimates. It is suggested that this dynamo is what gives weakly magnetized relativistic shocks such as those from gamma-ray bursts (GRBs) a macroscopic correlation length. It may also be important for large-scale magnetic field amplification associated with CR production and diffusive shock acceleration in supernova remnants (SNRs) and blast waves from GRBs. Magnetic field amplification by Bell turbulence in SNRs is found to be significant, but it is limited owing to the finite time available to the super-Alfvenicly expanding remnant. The effectiveness of the mechanisms is shown to be dependent on the shock velocity. Limits on magnetic field growth in longer-lived systems, such as the Galaxy and unconfined intergalactic CRs, are also discussed.
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