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Articles by Eric Vilain
Identification of de novo variants from parent-proband duos via long-read sequencing
Keywords de novo variants Mendelian disease long-read sequencing HiFi sequencing Introduction De novo variants, which are present in affected probands but not (constitutively) present in the parents, underlie a substantial fraction of Mendelian disorders.1,2,3,4,5,6 These disorders are typically highly penetrant and are often encountered as cases of severely affected probands with unaffected parents.
Benchmarking long-read genome sequence alignment tools for human genomics applications
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Decision making in differences of sex development/intersex care in the USA: bridging advocacy and family-centred care
“We now know this approach [early genital surgery] was harmful and wrong.”Two major US children's hospitals (Lurie Children's Hospital, Chicago, IL, and Boston Children's Hospital, Boston, MA) announced a suspension of some elective genital surgeries, particularly clitoroplasty. This announcement emerged in the context of nation-wide social and broadcast media criticising the practice and was widely depicted as a common-sense victory for the community of individuals identifying as intersex.
Benchmarking long-read genome sequence alignment tools for human genomics applications
Abstract Background: The utility of long-read genome sequencing platforms has been shown in many fields including whole genome assembly, metagenomics, and amplicon sequencing. Less clear is the applicability of long reads to reference-guided human genomics, the foundation of genomic medicine. Here, we benchmark available platform-agnostic alignment tools on datasets from nanopore and single-molecule real-time platforms to understand their suitability in producing a genome representation.
Towards improved genetic diagnosis of human differences of sex development
1. Lee, P. A. et al. Consensus statement on management of intersex disorders. Pediatrics 118, e488–e500 (2006). This seminal publication of the 2005 International Consensus Conference on Management of Intersex Disorders, convened by the Lawson Wilkins Pediatric Endocrine Society (LWPES) and the European Society for Paediatric Endocrinology (ESPE), coined the term DSD and laid out the current framework for nomenclature, diagnosis and interdisciplinary management of DSD.
Science's place in shaping gender-based policies in athletics
In 2009, South African runner Caster Semenya, aged 18 years, won the 800 m at the World Championships in Athletics in Berlin, only to be rapidly declared “a woman, but maybe not 100%” by the general secretary of the International Association of Athletic Federations (IAAF), and barred from competing. After being reinstated, she won Olympic Gold in 2012 and 2016 and became the 800 m World Champion in London in 2017.
Sexual Orientation, Controversy, and Science
Ongoing political controversies around the world exemplify a long-standing and widespread preoccupation with the acceptability of homosexuality. Nonheterosexual people have seen dramatic surges both in their rights and in positive public opinion in many Western countries. In contrast, in much of Africa, the Middle East, the Caribbean, Oceania, and parts of Asia, homosexual behavior remains illegal and severely punishable, with some countries retaining the death penalty for it.
UCLA faculty voice: What should you do if your son says he’s a girl?
Dr. Eric Vilain is a professor of human genetics and pediatrics at the UCLA and director of the Center for Gender-Based Biology. J. Michael Bailey is a professor of psychology at Northwestern University. This op-ed was published May 21 in the Los Angeles Times. Since the age of 2, he has been a very different kind of boy. He enjoys wearing his mother’s shoes and his sister’s dresses. He likes to play with girls and hates playing with boys, who are too rough.
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