Introduction Facilitated by recent technological advances, numerous human genomes are being sequenced, cataloging an unprecedented amount of genetic variants (GVs) 1 . A major challenge exists in identifying and interpreting potentially functional GVs. Disease-associated GVs ofte…
Study participants The use of human participants (IRB-4237) and human-derived induced pluripotent stem cells (SCRO-568) in this study has been approved by the Stanford Research Compliance Office. The UKBB received ethical approval from the North West—Haydock Research Ethics Commi…
Classification of M. tuberculosis L1 Among 1174 successfully sequenced M. tuberculosis isolates, 480 were initially identified by LSP as belonging to the Indo-Oceanic family and had the 330 SNPs, previously reported to be specific to L1 27 (Supplementary Table S1 ). The following…
Impact that matters | SNV SNV at EAIF 2026 Scaling proven solutions and improving financing approaches to unlock investment in renewable energy. Find out more The latest from us Perspective Perspective: Closing the WASH financing gap Perspective Perspective: How young entrepreneu…
Abilene Christian University Digital Commons @ ACU Management Sciences College of Business Administration 6-9-2017 Value Chain Development With The Extremely Poor: Evidence And Lessons From CARE, Save The Children, And World Vision Monty Lynn [email protected] Dan Norell Emily Ja…
Abstract Whole-genome sequencing harbors unprecedented potential for characterization of individual and family genetic variation. Here, we develop a novel synthetic human reference sequence that is ethnically concordant and use it for the analysis of genomes from a nuclear family…
AGRF Summit About the AGRF 2022 Summit The AGRF, Africa’s premier forum for driving the food and agriculture agenda in the continent, will host its 12th annual summit under the theme Grow. Nourish. Reward – Bold Actions for Resilient Food Systems from September 5-9, 2022 in Kigal…
Abstract Based on emerging evidence on the role for specific single-nucleotide variants (SNVs) in EIF2AK3 encoding the integrated stress response kinase PERK, in neurodegeneration, we assessed the association of EIF2AK3 SNVs with neurocognitive performance in people with HIV (PWH…
This is the released version of VarCon; for the devel version, see VarCon . VarCon: an R package for retrieving neighboring nucleotides of an SNV Bioconductor version: Release (3.22) VarCon is an R package which converts the positional information from the annotation of an single…
Abstract Rationale: Idiopathic pulmonary arterial hypertension (IPAH) is a life-threatening disorder characterized by progressive loss of pulmonary microvessels. Although mutations in the bone morphogenetic receptor 2 (BMPR2) are found in 80% of heritable and ∼15% of patients wit…
Abstract MicroRNAs (miRNAs) regulate diverse cancer hallmarks through sequence-specific regulation of gene expression, so genetic variability in their seed sequences or target sites could be responsible for cancer initiation or progression. While several efforts have been made to…
Antiquités africaines 55 | 2019 L’Afrique du Nord de la protohistoire à la conquête arabe 55 2019 Antiquités Africaines CNRS EDITIONS ANTIQUITÉS AFRICAINES L’AFRIQUE DU NORD DE LA PROTOHISTOIRE À LA CONQUÊTE ARABE Les Antiquités africaines publient des études historiques et arché…
DEVELOPMENT BULLETIN No. 81 November 2019 Editor: Pamela Thomas 81 LEADERSHIP FOR INCLUSIVE DEVELOPMENT THEMES • Dimensions of leadership • A review of womens’ leadership roles • Leadership in feminist organisations • Leadership for inclusion v inclusive leadership • Individuals …
Phylogenetic analysis of M . tuberculosis in Chiangrai 1170 successfully sequenced M . tuberculosis isolates were classified by phylogeny into Lineage 1–4 (L1-4) based on phylogenetic analysis of SNVs (single nucleotide variants) identified across their entire genomes. The result…
Subject enrollment In total, 273 subjects were recruited as part of the iPSCORE study, of which 215 subjects have been included in previous studies 39 , 40 , 41 . Data for additional 204 subjects were obtained from the HipSci Collection 42 , 43 . We have complied with all relevan…