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  • 1
    Online Resource
    Online Resource
    De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population
    Proceedings of the National Academy of Sciences ; 2020
    In:  Proceedings of the National Academy of Sciences Vol. 117, No. 5 ( 2020-02-04), p. 2560-2569
    Details
    In: Proceedings of the National Academy of Sciences, Proceedings of the National Academy of Sciences, Vol. 117, No. 5 ( 2020-02-04), p. 2560-2569
    Abstract: De novo mutations (DNMs), or mutations that appear in an individual despite not being seen in their parents, are an important source of genetic variation whose impact is relevant to studies of human evolution, genetics, and disease. Utilizing high-coverage whole-genome sequencing data as part of the Trans-Omics for Precision Medicine (TOPMed) Program, we called 93,325 single-nucleotide DNMs across 1,465 trios from an array of diverse human populations, and used them to directly estimate and analyze DNM counts, rates, and spectra. We find a significant positive correlation between local recombination rate and local DNM rate, and that DNM rate explains a substantial portion (8.98 to 34.92%, depending on the model) of the genome-wide variation in population-level genetic variation from 41K unrelated TOPMed samples. Genome-wide heterozygosity does correlate with DNM rate, but only explains 〈 1% of variation. While we are underpowered to see small differences, we do not find significant differences in DNM rate between individuals of European, African, and Latino ancestry, nor across ancestrally distinct segments within admixed individuals. However, we did find significantly fewer DNMs in Amish individuals, even when compared with other Europeans, and even after accounting for parental age and sequencing center. Specifically, we found significant reductions in the number of C→A and T→C mutations in the Amish, which seem to underpin their overall reduction in DNMs. Finally, we calculated near-zero estimates of narrow sense heritability ( h 2 ), which suggest that variation in DNM rate is significantly shaped by nonadditive genetic effects and the environment.
    Type of Medium: Online Resource
    ISSN: 0027-8424 , 1091-6490
    URL: Article
    DOI: 10.1073/pnas.1902766117
    RVK:
    TA 1000
    RVK:
    WA 15000
    Language: English
    Publisher: Proceedings of the National Academy of Sciences
    Publication Date: 2020
    detail.hit.zdb_id: 209104-5
    detail.hit.zdb_id: 1461794-8
    SSG: 11
    SSG: 12
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  • 2
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    Online Resource
    The event-related brain potentials to uncorrelated fragment of noise
    Acoustical Society of America (ASA) ; 2005
    In:  The Journal of the Acoustical Society of America Vol. 117, No. 4_Supplement ( 2005-04-01), p. 2565-2565
    Details
    In: The Journal of the Acoustical Society of America, Acoustical Society of America (ASA), Vol. 117, No. 4_Supplement ( 2005-04-01), p. 2565-2565
    Abstract: Two correlated waveforms of broadband noise presented to the left and right ear simultaneously or with a short delay are often perceptually fused into one sound image. However, when an uncorrelated noise fragment (UCNF) is inserted in a long duration sound, listeners report hearing a transient burst of noise. The detection of the UCNF is dependent on the duration of the UCNF and the binaural delays. Here, we recorded event-related brain potentials (ERPs) to 100-ms UCFN and varied the binaural delay (0, 3, 10, and 20 ms) from trial to trial. The likelihood of detecting the UCNF decreased with increasing binaural delay. At 0 delay, the UCNF elicited negative and positive waves peaking at about 100 and 200 ms after UCNF onset (N1-P2 complex), which was present even when the stimuli were ignored. The conscious detection of the UCNF elicited an additional positive wave between 250 and 450 ms at parietal and occipital sites (P3b). The P3b latency was longer and its amplitude larger for binaural delay of 3 than 0 ms. Our results show that the detection of UCF involved both automatic and attention-dependent processes especially when a binaural delay is introduced between two source of correlated noises.
    Type of Medium: Online Resource
    ISSN: 0001-4966 , 1520-8524
    URL: Article
    DOI: 10.1121/1.4788541
    RVK:
    EQ 1000
    Language: English
    Publisher: Acoustical Society of America (ASA)
    Publication Date: 2005
    detail.hit.zdb_id: 1461063-2
    Location Call Number Limitation Availability
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  • 3
    Online Resource
    Online Resource
    Electrically-evoked frequency following responses in the auditory brainstem of cochlear impaired guinea pigs
    Acoustical Society of America (ASA) ; 2016
    In:  Journal of the Acoustical Society of America Vol. 139, No. 4_Supplement ( 2016-04-01), p. 1988-1988
    Details
    In: Journal of the Acoustical Society of America, Acoustical Society of America (ASA), Vol. 139, No. 4_Supplement ( 2016-04-01), p. 1988-1988
    Abstract: It is still a difficult clinical issue to decide whether a patient is a suitable candidate for a cochlear implant and to plan postoperative rehabilitation, especially for some special cases, such as auditory neuropathy. A partial solution to these problems is to preoperatively evaluate the functional integrity of the auditory neural pathways. For evaluating the strength of phase-locking of auditory neurons, which was not reflected in previous methods using electrically evoked auditory brainstem response (EABRs), electrically evoked frequency following responses (EFFRs) recorded on normal guinea pigs have been studied in a previous study (He et al. 2014, PLoS One). To investigate the feasibility of EFFRs for clinic, a cochlear impaired model of guinea pig was used to compare the EFFRs for normal and impaired hearing, and to compare EFFRs and EABRs for the impaired hearing. Eight guinea pigs were used, and the experiment results showed that: (1) there were no significant differences of EFFRs between the normal and the cochlear impaired guinea pigs on the relative amplitudes, the latencies, the frequency ranges, and the evoked thresholds; (2) the evoked threshold of EFFRs was lower than EABRs, and the EFFRs were recorded successfully more times than EABRs.
    Type of Medium: Online Resource
    ISSN: 0001-4966 , 1520-8524
    URL: Article
    DOI: 10.1121/1.4949809
    RVK:
    EQ 1000
    Language: English
    Publisher: Acoustical Society of America (ASA)
    Publication Date: 2016
    detail.hit.zdb_id: 1461063-2
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  • 4
    Online Resource
    Online Resource
    Caught in the crossfire: Fears of Chinese–American scientists
    Proceedings of the National Academy of Sciences ; 2023
    In:  Proceedings of the National Academy of Sciences Vol. 120, No. 27 ( 2023-07-04)
    Details
    In: Proceedings of the National Academy of Sciences, Proceedings of the National Academy of Sciences, Vol. 120, No. 27 ( 2023-07-04)
    Abstract: The US global leadership in science and technology has greatly benefitted from immigrants from other countries, most notably from China in the recent decades. However, feeling the pressure of potential federal investigations since the 2018 launch of the China Initiative, scientists of Chinese descent in the United States now face higher incentives to leave the United States and lower incentives to apply for federal grants. Analyzing data pertaining to institutional affiliations of more than 200 million scientific papers, we find a steady increase in the return migration of scientists of Chinese descent from the United States to China. We also conducted a survey of scientists of Chinese descent employed by US universities in tenured or tenure-track positions (n = 1,304), with results revealing general feelings of fear and anxiety that lead them to consider leaving the United States and/or stop applying for federal grants. If the situation is not corrected, American science will likely suffer the loss of scientific talent to China and other countries.
    Type of Medium: Online Resource
    ISSN: 0027-8424 , 1091-6490
    URL: Article
    DOI: 10.1073/pnas.2216248120
    RVK:
    TA 1000
    RVK:
    WA 15000
    Language: English
    Publisher: Proceedings of the National Academy of Sciences
    Publication Date: 2023
    detail.hit.zdb_id: 209104-5
    detail.hit.zdb_id: 1461794-8
    SSG: 11
    SSG: 12
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  • 5
    Online Resource
    Online Resource
    Feature-specific cortical plasticity after rapid perceptual learning during speech segregation: a MEG study
    Acoustical Society of America (ASA) ; 2012
    In:  The Journal of the Acoustical Society of America Vol. 131, No. 4_Supplement ( 2012-04-01), p. 3388-3388
    Details
    In: The Journal of the Acoustical Society of America, Acoustical Society of America (ASA), Vol. 131, No. 4_Supplement ( 2012-04-01), p. 3388-3388
    Abstract: This study examined whether 1-hour perceptual training could elicit feature-specific improvement of performance and corresponding cortical plasticity in humans during speech segregation by using magnetoencephalography (MEG). One group of participants learned to segregate concurrent vowels by using difference in fundamental frequency (f0) while the other group learned to use difference in sound location. MEG recordings were conducted after the training and required participants to identify the two different vowels, which may have the same f0 and location or differ in f0 only, location only or both f0 and location. Compared to Control Group who didn't receive pre-scan training, the trained groups showed behavioral improvements specific to the trained cues which were paralleled by feature-specific changes on brain activities. That is, f0-difference-induced changes in dipole source-waveforms in auditory cortex were only modulated in Frequency Group, while location-difference-induced changes were only modulated in Location Group. Furthermore, Frequency Group showed stronger activations in auditory “what” pathway than Location Group when processing f0-difference, while Location Group revealed stronger activation in auditory “where” pathway than Frequency Group when processing location-difference. The double-disassociation in both behaviors and neuromagnetic responses indicates that rapid perceptual learning could elicit highly feature-specific plasticity in human cortex during speech segregation.
    Type of Medium: Online Resource
    ISSN: 0001-4966 , 1520-8524
    URL: Article
    DOI: 10.1121/1.4708779
    RVK:
    EQ 1000
    Language: English
    Publisher: Acoustical Society of America (ASA)
    Publication Date: 2012
    detail.hit.zdb_id: 1461063-2
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