Clinical Genomics Guide

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Mayelana nalolu hlelo lokusebenza

Lolu hlelo lokusebenza lwamahala lunikeza incazelo emfushane yemigomo eminingi esetshenziselwa kakhulu (kodwa ngokuvamile engaqondakali) esetshenziselwa izakhi zofuzo zomtholampilo, njenge "FASTQ", "VCF", "gVCF", "amafayela we-BED", "izikolo ze-PLI" kanye " Z izikolo ".

Kwadalwa ukusiza abafundi nabaqeqeshiwe kanye nokuhamba phambili: (a) Uchungechunge lweProf Tobias lwezinkulumo ze-Clinical Genomics (ku-MSc ewinawo wonke ama-Medical Genetics & Genomics eNyuvesi yaseGlasgow, e-UK), (b) wakhe izincwadi zezokwelapha zezokwelapha (kufaka phakathi "i-Essential Medical Genetics" kanye ne "Medical Genetics ye-MRCOG ne-Beyond") kanye (c) namawebhusayithi akhe wezemfundo (www.EuroGEMS.org ne www.essentialmedgen.com). Uhlelo lokusebenza lwadalwa bobabili u-Edward no-Adam Tobias.

U Prof Ed Tobias ungumcwaningi, umfundisi kanye nomtholampilo wezokwelapha. Uhlonishwa ukuba yilungu elimenywe yiKomiti Yezemfundo Ye-European Society of Human Genetics (ESHG) ne-European Board of Medical Genetics kanye nokusebenzisa iwebhusayithi ye-EuroGEMS.org yemithombo yezemfundo ye-ESHG. Ungumphenyi we-(u-genome-sequencing) we-Scottish Genomes Partnership kanye nomhlanganyeli wephrojekthi ye-DDD yase-UK yokulandelana.

Uhlelo lokusebenza lwakwamukelwa yi-European Society of Human Genetics (ESHG), i-DSDnet ne-ScotGEN. Kodwa-ke, akuklanyelwe ukuhlinzeka noma ukufaka esikhundleni sokunakekelwa kwezempilo kanye nezeluleko. Futhi, ukunemba kokuqukethwe kohlelo lokusebenza akukwazi ukuqinisekiswa.

Uhlelo lokusebenza lukhululekile futhi luvele luthemba ukuthi abafundi nabachwepheshe, emhlabeni jikelele, bazothola kuyasiza. Impendulo neziphakamiso zingathunyelwa nge-imeyili ku-edward.tobias@glasgow.ac.uk. Ngaphandle kwalokho kungathunyelwa ngokusebenzisa ifomu elithi "Ukuxhumana" ku-www.EuroGEMS.org noma ku-www.esssentialmedgen.com
Kubuyekezwe ngo-
Feb 15, 2024

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