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crossworks.holycross.edu | ||
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ro.uow.edu.au
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| | | | | Those who challenge conventional views or vested interests in science are likely to encounter difficulties. A scientific dissenter should first of all realize that science is a system of power as well as knowledge, in which interest groups play a key role and insiders have an extra advantage. Dissenters are likely to be ignored or dismissed. If they gain some recognition or outside support, they may be attacked. In the face of such obstacles, there are several strategies, including mimicking science, aim... | |
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ecollections.law.fiu.edu
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| | | | | By Dr. Matthew Eric Bassett, Published on 01/01/20 | |
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digitalcommons.wustl.edu
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| | | | | BACKGROUNDS: While many studies agree that consanguinity increases the rate of congenital heart disease (CHD), few genome analyses have been conducted with consanguineous CHD cohorts. METHODS: We recruited 73 CHD probands from consanguineous families in Turkey and used whole-exome sequencing (WES) to identify genetic lesions in these patients. RESULTS: On average, each patient had 6.95 rare damaging homozygous variants, 0.68 of which are loss-of-function (LoF) variants. Seven patients (9.6%) carried damaging homozygous variants in five causal CHD genes. Six of those patients exhibited laterality defects (six HTX and one D-TGA). Three additional patients (4.1%) harbored other types of CHD-associated genomic alterations, which overall explained 13.7% (10/73) of the cohort. The contribution from recessive variants in our cohort is higher than 1.8% reported from a cohort of 2871 CHD subjects where 5.6% of subjects met the criteria for consanguinity. CONCLUSIONS: Our WES screen of a Turkish consanguineous population with structural CHD revealed its unique genetic architecture. Six of seven damaging homozygous variants in CHD causal genes occur in the setting of laterality defects implies a strong contribution from consanguinity to these defects specifically. Our study thus provided valuable information about the genetic landscape of CHD in consanguineous families in Turkey. | |
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www.aanda.org
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| | | Astronomy & Astrophysics (A&A) is an international journal which publishes papers on all aspects of astronomy and astrophysics | ||
