Genome sequencing and implications for rare disorders
JE Posey - Orphanet journal of rare diseases, 2019 - Springer
The practice of genomic medicine stands to revolutionize our approach to medical care, and
to realize this goal will require discovery of the relationship between rare variation at each of …
to realize this goal will require discovery of the relationship between rare variation at each of …
A whole-genome reference panel of 14,393 individuals for East Asian populations accelerates discovery of rare functional variants
Underrepresentation of non-European (EUR) populations hinders growth of global precision
medicine. Resources such as imputation reference panels that match the study population …
medicine. Resources such as imputation reference panels that match the study population …
Enhanced mitochondrial genome analysis: bioinformatic and long-read sequencing advances and their diagnostic implications
WL Macken, M Falabella, C Pizzamiglio… - Expert Review of …, 2023 - Taylor & Francis
ABSTRACT Introduction Primary mitochondrial diseases (PMDs) comprise a large and
heterogeneous group of genetic diseases that result from pathogenic variants in either …
heterogeneous group of genetic diseases that result from pathogenic variants in either …
An integrated personal and population-based Egyptian genome reference
A small number of de novo assembled human genomes have been reported to date, and
few have been complemented with population-based genetic variation, which is particularly …
few have been complemented with population-based genetic variation, which is particularly …
Clinical and genetic spectrums of 413 North African families with inherited retinal dystrophies and optic neuropathies
A Bouzidi, H Charoute, M Charif, G Amalou… - Orphanet Journal of …, 2022 - Springer
Background Inherited retinal dystrophies (IRD) and optic neuropathies (ION) are the two
major causes world-wide of early visual impairment, frequently leading to legal blindness …
major causes world-wide of early visual impairment, frequently leading to legal blindness …
Exceptional diversity of KIR and HLA class I in Egypt
G Montero‐Martin, KM Kichula, MK Misra… - HLA, 2024 - Wiley Online Library
Genetically determined variation of killer cell immunoglobulin like receptors (KIR) and their
HLA class I ligands affects multiple aspects of human health. Their extreme diversity is …
HLA class I ligands affects multiple aspects of human health. Their extreme diversity is …
Complete genome sequence and bioinformatics analysis of nine Egyptian females with clinical information from different geographic regions in Egypt
Egyptians are at a crossroad between Africa and Eurasia, providing useful genomic
resources for analyzing both genetic and environmental factors for future personalized …
resources for analyzing both genetic and environmental factors for future personalized …
[HTML][HTML] 1 例中国塔吉克族人全基因组重测序分析及其与高原适应关联的初步研究
龚亮， 阳盛洪， 高亮， 陈郁， 陈兴书， 罗勇军 - 2019 - aammt.tmmu.edu.cn
目的通过对1 例中国塔吉克族人的全基因组重测序分析, 探讨塔吉克族人的遗传特征和高原适应
之间的关系. 方法选取1 例健康的中国塔吉克族成年男性(编号为T153), 提取全血DNA …
之间的关系. 方法选取1 例健康的中国塔吉克族成年男性(编号为T153), 提取全血DNA …
Halophilic Genes that Impact Plant Growth in Saline Soils
MA Meinzer - 2023 - search.proquest.com
Many plants are highly sensitive to salt in the soil, and their growth and yield can be greatly
hindered by as little as less than 1% salt concentration in the soil. Additionally, soil salinity is …
hindered by as little as less than 1% salt concentration in the soil. Additionally, soil salinity is …
Complete genome sequence and analysis of nine Egyptian females with clinical information from different geographic regions in Egypt
Egyptians are at a crossroad between Africa and Eurasia, providing useful genomic
resources for analyzing both genetic and environmental factors for future personalized …
resources for analyzing both genetic and environmental factors for future personalized …