Margaux Lê, Pauline Quémart, Anna Potocki, Manuel Gimenes, David Chesnet, Eric Lambert
Modeling the influence of motor skills on literacy in third grade: Contributions of executive functions and handwriting
PloS one
distribution rbc antigens define blood group types differs among populations contrast many world populations blood group profiles indigenous australians well studied possible predict comprehensive blood group antigen profiles genomic data sets aimed apply indigenous australians provide comparison major world populations whole exome sequence data 72 western desert indigenous australians provided telethon kids institute variants hg19 annotated using computer software annovar qiagen bioinformatics filtered include variants genes 36 blood group systems transcription factors klf1 gata1 rhcec allele rhd zygosity identified copy number variant analysis sequence alignments impact missense variants investigated silico using metapredictor diseasecausing variants metasnp 21 blood group systems predicted blood group antigen frequencies comparable major world populations 13 systems interesting points contrast identified furthermore identified 12 novel variants one novel allele four rare variants potential clinical significance first systematic assessment genomic data elucidate blood group antigen profiles indigenous australians linguistically culturally diverse study paves way understanding geographic distribution blood group variants different indigenous groups associated rbc phenotypes turn expected guide transfusion practice indigenous individuals