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The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis

The global prevalence and ethnic heterogeneity of primary ciliary dyskinesia gene variants: a genetic database analysis
thelancet.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from thelancet.com Daily Mail and Mail on Sunday newspapers.

United States , San Francisco , North America , African American , Ashkenazi Jewish , Finnish European , Genome Aggregation Database , North American ,

Frontiers | Concurrent Newborn Hearing and Genetic Screening in a Multi-Ethnic Population in South China

Hearing loss is a common sensory deficit in humans with intricate genomic landscape and mutational signature. Approximately 1 - 3 out of 1,000 newborns have hearing loss and up to 60% of these cases have a genetic etiology. In this study, we conducted the concurrent newborn hearing and genetic screening in 20 mutations in GJB2, GJB3, SLC26A4 and MT-RNR1 for 9,506 normal newborns (4,977 [52.4%] males) from 22 ethnic population in South China. A total of 1,079 (11.4%) newborns failed to pass the initial hearing screening, 160 (23.9%) infants failed to pass the re-screening, and 128 (1.4%) infants presented the diagnostic hearing loss. For the genetic screening, 220 (2.3%) newborns presented at least one of the screened mutations were more likely to fail the hearing screening and have diagnostic hearing loss than mutation negative newborns. In comparison of the differences of distribution of mutations, we did not identify any significant difference in the prevalence of screened mutations ....

United States , Eteläuomen Läi , South Korea , J Pediatr Otorhinolaryngol , Qixuan Wang , Ann Otol Rhinol Laryngol , Zhiwu Huang , Shanghai Jiao Tong University School Of Medicine , Zeesan Biological Technology Co Ltd , Child Health Care Hospital , Genome Reference Consortium Human , Human Genome Variation Society , Ethics Committee Of Liuzhou Maternal , Association For Molecular Pathology , Genetic Screening , Health Research , Child Health Hospital , American College Of Medical Genetics , Western Europeans , Southeast Asia , Liuzhou Maternal , Ethics Committee , Genetic Testing Kit , Hereditary Deafness , American College , Medical Genetics ,

Ask HN: Who is hiring? (December 2021)

Ask HN: Who is hiring? (December 2021)
ycombinator.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from ycombinator.com Daily Mail and Mail on Sunday newspapers.

Comunidad Autonoma De Cataluna , United States , France General , United Kingdom , Czech Republic , San Francisco , Noord Holland , New Zealand , Andhra Pradesh , Los Angeles , City Of Boston , City Of , New York , Rhode Island , Stanford University , Salt Lake City , Tamil Nadu , Apollo Graph , Karma Jasmine , Javascript Vue , Postgresql Gitlab Kubernetes , Scala Akka , Alex Riewer , Django Elasticsearch Postgre , Andreessen Horowitz , Enbala Denver ,

Ask HN: Who is hiring? (November 2021)

Ask HN: Who is hiring? (November 2021)
ycombinator.com - get the latest breaking news, showbiz & celebrity photos, sport news & rumours, viral videos and top stories from ycombinator.com Daily Mail and Mail on Sunday newspapers.

Ngo Lang , Jammu And Kashmir , United States , Vila Real , United Kingdom , Noord Holland , Los Angeles , New York , Republic Of , South Africa , City Of , Amperity Seattle , Vue Nuxt , Stanford Changelabs , Postgres Timescale , Clojure Clojurescript , Frontend Developers Serbia , Software Engineer Windows , Auxon Senior Software Engineer , Stackbit Senior Software Engineer Remote , Remote Company Multiple Positions , Ae Studio La Office Multiple Roles , Senior Software , Iot Embedded Software , Financial Services , Omidyar Group ,

Researchers identify new gene variants that may cause inherited retinal dystrophies

An international team of researchers, led by scientists at University of California San Diego and Shiley Eye Institute at UC San Diego Health, has broadened and deepened understanding of how inherited retinal dystrophies (IRDs) affect different populations of people and, in the process, have identified new gene variants that may cause the diseases. ....

San Diego , United States , University Of California San Diego , Emily Henderson , Uc San Diego Health , Shiley Eye Institute , Drug Administration , California San Diego , Diego Health , European Americans , Genome Aggregation Database , Gene Therapy , Retinitis Pigmentosa , Vision Loss ,