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null (Ed.)The Zoonomia Project is investigating the genomics of shared and specialized traits in eutherian mammals. Here we provide genome assemblies for 131 species, of which all but 9 are previously uncharacterized, and describe a whole-genome alignment of 240 species of considerable phylogenetic diversity, comprising representatives from more than 80% of mammalian families. We find that regions of reduced genetic diversity are more abundant in species at a high risk of extinction, discern signals of evolutionary selection at high resolution and provide insights from individual reference genomes. By prioritizing phylogenetic diversity and making data available quickly and without restriction, the Zoonomia Project aims to support biological discovery, medical research and the conservation of biodiversity.more » « less
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Birgmeier, Johannes ; Esplin, Edward D. ; Jagadeesh, Karthik A. ; Guturu, Harendra ; Wenger, Aaron M. ; Chaib, Hassan ; Buckingham, Julia A. ; Bejerano, Gill ; Bernstein, Jonathan A. ( , American Journal of Medical Genetics Part A)
Robinow syndrome (RS) is a well‐recognized Mendelian disorder known to demonstrate both autosomal dominant and autosomal recessive inheritance. Typical manifestations include short stature, characteristic facies, and skeletal anomalies. Recessive inheritance has been associated with mutations in
ROR2 while dominant inheritance has been observed for mutations inWNT5A ,DVL1 , andDVL3 . Through trio whole genome sequencing, we identified a homozygous frameshifting single nucleotide deletion inWNT5A in a previously reported, deceased infant with a unique constellation of features comprising a 46,XY disorder of sex development with multiple congenital malformations including congenital diaphragmatic hernia, ambiguous genitalia, dysmorphic facies, shortened long bones, adactyly, and ventricular septal defect. The parents, who are both heterozygous for the deletion, appear clinically unaffected. In conjunction with published observations ofWnt5a double knockout mice, we provide evidence for the possibility of autosomal recessive inheritance in association withWNT5A loss‐of‐function mutations in RS.