C1272 perkataan2:19Laporan Berita Loghat BritishDiterbitkan 10 Jul 2026 · Dikemas kini 10 Jul 2026

Pratonton Audio Lengkap

0:00

Pemahaman Kosa Kata Shadowing Kuiz Imlak Misi

A landmark genomic study published in the European Journal of Human Genetics has demonstrated that copy number variant analysis through exome sequencing can substantially enhance diagnostic yield for developmental disorders in African populations.

The research, conducted under the Deciphering Developmental Disorders in Africa initiative, employed two well-established bioinformatics tools utilizing distinct algorithmic approaches to identify copy number variants from existing exome sequencing data.

Researchers emphasized that this methodology could prove particularly transformative in resource-limited healthcare environments across the continent.

The DDD-Africa study was initiated with the explicit aim of implementing genomic medicine solutions for rare developmental disorders in Africa.

The project focused primarily on cohorts recruited from South Africa and the Democratic Republic of Congo.

Ethics approval was obtained from multiple institutions, including the University of the Witwatersrand, the University of Pretoria, and the University of Kinshasa, thereby ensuring rigorous ethical oversight throughout the investigation.

The cohort comprised 505 probands diagnosed with developmental disorders who had received no prior genetic diagnosis, along with their parents where available.

The average age of participants was 7.2 years, with males constituting sixty-two percent of the sample.

Recruitment yielded 358 participants from South Africa and 147 from the Democratic Republic of Congo, encompassing 239 trios, 235 duos, and 14 singletons.

#10

Were it not for advances in bioinformatics, extracting copy number variant data from exome sequencing would remain prohibitively challenging.

#11

The study's findings suggest that exome sequencing-based approaches could serve as a viable first-tier genetic diagnostic test for developmental disorders across Africa.

#12

Should these methods gain wider adoption, they would significantly reduce the financial burden associated with separate genomic analyses in regions where healthcare resources are scarce.

Senarai Frasa (4 frasa)

Frasa dengan label jenis, definisi dwibahasa, nota penggunaan, dan contoh ayat.

diagnostic yield

technical term

The likelihood that a medical test or procedure will provide the information needed to establish a diagnosis.

kadar diagnosis, kadar pengesanan diagnostik

Penjelasan: Dalam bidang perubatan dan ujian genetik, merujuk kepada peratusan sesuatu kaedah ujian yang berjaya mengenal pasti punca penyakit atau kes yang disahkan, yang merupakan petunjuk penting untuk menilai keberkesanan alat diagnostik.

Contoh: The introduction of next-generation sequencing has significantly increased the diagnostic yield for rare genetic diseases.

exome sequencing

technical term

A genomic technique for sequencing all of the protein-coding regions of genes in a genome.

penjujukan eksom

Penjelasan: Satu teknik ujian genetik yang khusus menjujukan kawasan dalam genom yang bertanggungjawab untuk mengekod protein (ekson), yang lebih kos efektif berbanding penjujukan seluruh genom.

Contoh: Exome sequencing is widely used in clinical settings to identify mutations responsible for rare inherited disorders.

copy number variant

technical term

A phenomenon in which sections of the genome are repeated and the number of repeats in the genome varies between individuals.

Variasi bilangan salinan

Penjelasan: Merujuk kepada fenomena variasi di mana bilangan salinan segmen tertentu dalam genom meningkat atau berkurang, yang merupakan punca penting kepada banyak penyakit genetik dan kelewatan perkembangan.

Contoh: Copy number variant analysis can reveal genetic deletions or duplications that standard sequencing might miss.

Were it not for

idiom

If it were not for; used to say that something would happen or be true if another thing did not prevent it.

Jika bukan kerana; digunakan untuk menyatakan bahawa sesuatu akan berlaku...

Penjelasan: Ini ialah struktur ayat songsang bersyarat tahap lanjutan (asalnya If it were not for), digunakan untuk menunjukkan bahawa sesuatu fakta pada masa lalu atau sekarang merupakan faktor penentu tunggal bagi sesuatu hasil. Nada bahasa ini lebih formal dan bersifat penulisan.

Contoh: Were it not for your timely assistance, we would not have completed the project on schedule.

Kursus Disyorkan

Ulasan Pelajar

Tulis ulasan

Kembali ke Kursus Daftar

Copy number variant analysis by exome sequencing is an effective approach to optimize diagnostic...Penemuan Genomik dalam Kajian Gangguan Perkembangan di Afrika

Pratonton Audio Lengkap

Mod Pembelajaran

Kandungan Pembelajaran

Senarai Kosa Kata (9 perkataan)

Senarai Frasa (4 frasa)

Kursus Disyorkan

Ulasan Pelajar

Senarai Kosa Kata (9 perkataan)

Senarai Frasa (4 frasa)

Pratonton Audio Lengkap

Mod Pembelajaran

Kandungan Pembelajaran

Senarai Kosa Kata (9 perkataan)

Senarai Frasa (4 frasa)

Kursus Disyorkan

New research links prenatal exposure to Pfas to later development of PMOSPenyelidikan baharu mengaitkan pendedahan pranatal kepada PFAS dengan perkembangan PMOS di kemudian hari

Trial of multi-cancer blood test among 142,000 NHS patients fails to meet main aimPercubaan ujian darah pelbagai kanser dalam kalangan 142,000 pesakit NHS gagal mencapai matlamat utama

What is immunotherapy and how does it treat cancer and other conditions?Apakah itu imunoterapi dan bagaimanakah ia merawat kanser dan keadaan lain?

Households outshine business in Australia’s rooftop solar revolution, report findsLaporan mendapati isi rumah mengatasi perniagaan dalam revolusi solar bumbung Australia

Ulasan Pelajar

Senarai Kosa Kata (9 perkataan)

Senarai Frasa (4 frasa)