Results 11 to 20 of about 10,288,978 (312)
A sequence-based global map of regulatory activity for deciphering human genetics
Nature Genetics, 2021 Epigenomic profiling has enabled large-scale identification of regulatory elements, yet we still lack a systematic mapping from any sequence or variant to regulatory activities.
Kathleen M. Chen +3 more
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Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids, 2021 Through seven decades the inverse association between HDL cholesterol concentrations and risk of atherosclerotic cardiovascular disease (ASCVD) has been observed in case-control and prospective cohort studies.
E. W. Kjeldsen +2 more
semanticscholar +1 more source
BioMed Research International, 2015 There is no question that the rapid advance in genetic technology is changing our viewpoint on medical practice, which is dramatically improving the diagnosis, prognosis, and therapy of human genetic disease. In particular, the next-generation sequencing (NGS) technologies, such as exome sequencing and whole-genome sequencing, and gene editing ...
Hao Deng +5 more
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Scientific Reports, 2021 SHANK2 mutations have been identified in individuals with neurodevelopmental disorders, including intellectual disability and autism spectrum disorders (ASD).
Christine Unsicker +5 more
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Human genetics and its impact on cardiovascular disease.
Journal of Cardiology, 2021 Cardiovascular disease (CVD) is a major cause of death worldwide. Given that CVD is a highly heritable trait, researchers have attempted to fully understand the genetic basis of CVD for a long time. The human genome comprises 3,100 Mbp per haploid genome
H. Tada +4 more
semanticscholar +1 more source
BMC Research Notes, 2020 Objective Non invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) has been widely accepted in recent years to detect common fetal autosomal chromosome aneuploidies and sex chromosome aneuploidies (SCAs).
Katia Margiotti +8 more
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Frontiers in Cardiovascular Medicine, 2023 Congenital aortic valve stenosis (AVS) is one of the most common valve anomalies and accounts for 3%–6% of cardiac malformations. As congenital AVS is often progressive, many patients, both children and adults, require transcatheter or surgical ...
Jun Yasuhara +8 more
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Scientific Reports, 2021 Sex-specific differences in prevalence are well documented for many common, complex diseases, especially for immune-mediated diseases, yet the precise mechanisms through which factors associated with biological sex exert their effects throughout life are
Michelle M. Stein +8 more
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Human Genetic Research in Pakistan: Challenges and Way forward
Life and Science, 2021 The 90s ushered in the era of molecular genetics in Pakistan. Our centuries’ old tradition of consanguineous marriages, resulting in the availability of large, inbred families with inherited disorders, proved to be a goldmine for geneticists, working to ...
Syed Muhammad Imran Majeed +1 more
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Human Mitochondrial Genetics [PDF]
Biotechnology and Genetic Engineering Reviews, 2000 (2000). Human Mitochondrial Genetics. Biotechnology and Genetic Engineering Reviews: Vol. 17, No. 1, pp. 147-178.
L A, Tully, B C, Levin
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