3 Works

Patterns and distribution of de novo mutations in multiplex Middle Eastern families

Muhammad Kohailan, Waleed Aamer, Najeeb Syed, Sujitha Padmajeya, Sura Hussein, Amira Sayed, Jyothi Janardhanan, Sasirekha Palaniswamy, Nady El hajj, Ammira Al-Shabeeb Akil & Khalid A. Fakhro
While de novo mutations (DNMs) are key to genetic diversity, they are also responsible for a high number of rare disorders. To date, no study has systematically examined the rate and distribution of DNMs in multiplex families in highly consanguineous populations. Leveraging WGS profiles of 645 individuals in 146 families, we implemented a combinatorial approach using 3 complementary tools for DNM discovery in 353 unique trio combinations. We found a total of 27,168 DNMs (median:...

Data from: Can body mass and skull morphology predict seed and fruit ingestion potential for mammal species? A test using extant species and its application to extinct species

Elise Sivault, Kim McConkey, Francois Bretagnolle, Asmita Sengupta, Joanna Lambert, Eckhard Heymann, Pierre-Michel Forget & Anthony Herrel
Larger animals are assumed to ingest larger seeds and consume larger fruits, but empirical studies reveal inconsistent trends between body mass and the average size of fruits and seeds ingested. Further, no studies have explored seed size relationships with morphological traits, such as skull dimensions. Such characteristics might provide more reliable estimates of ingestion ability and allow for accurate predictions of seed dispersal capacity in species for which we lack empirical data, especially extinct species....

Patterns and distribution of de novo mutations in multiplex Middle Eastern families

Muhammad Kohailan, Waleed Aamer, Najeeb Syed, Sujitha Padmajeya, Sura Hussein, Amira Sayed, Jyothi Janardhanan, Sasirekha Palaniswamy, Nady El hajj, Ammira Al-Shabeeb Akil & Khalid A. Fakhro
While de novo mutations (DNMs) are key to genetic diversity, they are also responsible for a high number of rare disorders. To date, no study has systematically examined the rate and distribution of DNMs in multiplex families in highly consanguineous populations. Leveraging WGS profiles of 645 individuals in 146 families, we implemented a combinatorial approach using 3 complementary tools for DNM discovery in 353 unique trio combinations. We found a total of 27,168 DNMs (median:...

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Affiliations

  • University of Burgundy
    3
  • Sidra Medical and Research Center
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  • Hamad bin Khalifa University
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  • Weill Cornell Medical College in Qatar
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  • Ashoka Trust for Research in Ecology and the Environment
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  • German Primate Center
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  • University of Colorado Boulder
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  • National Museum of Natural History
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  • University of Nottingham Malaysia Campus
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  • Biology Centre
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