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Akademický článek

Genetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery

Autor: Xiaolei Zhang, Pantazis I. Theotokis, Nicholas Li, the SHaRe Investigators, Caroline F. Wright, Kaitlin E. Samocha, Nicola Whiffin, James S. Ware

Publikováno v: Genome Medicine, Vol 16, Iss 1, Pp 1-12 (2024)

Abstract Background One of the major hurdles in clinical genetics is interpreting the clinical consequences associated with germline missense variants in humans. Recent significant advances have leveraged natural variation observed in large-scale hum

Externí odkaz: https://doaj.org/article/696f2ae58f374123a9cf5ed1249bfe43

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Akademický článek

Developing the ‘Life Threads’ approach to support families after traumatic brain injury in UK community settings: protocol for a qualitative prefeasibility study

Autor: Caroline Ellis-Hill, Fergus Gracey, Mark Holloway, Charlotte Jane Whiffin, Alyson Norman, Morag Lee, Parmjeet Kaur Singh, Jo Clark-Wilson, Audrey Daisley, Natasha Yasmin Felles, Sara Rose

Publikováno v: BMJ Open, Vol 14, Iss 10 (2024)

Introduction Traumatic brain injury (TBI) brings about inevitable and significant changes for family members. Mental health effects for family members are well documented but there are significant gaps in support options across services. Here, we des

Externí odkaz: https://doaj.org/article/2dc9482e78fb46cba5593dc45df49fad

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Akademický článek

Differences in 5'untranslated regions highlight the importance of translational regulation of dosage sensitive genes

Autor: Nechama Wieder, Elston N. D’Souza, Alexandra C. Martin-Geary, Frederik H. Lassen, Jonathan Talbot-Martin, Maria Fernandes, Sonia P. Chothani, Owen J. L. Rackham, Sebastian Schafer, Julie L. Aspden, Daniel G. MacArthur, Robert W. Davies, Nicola Whiffin

Publikováno v: Genome Biology, Vol 25, Iss 1, Pp 1-16 (2024)

Abstract Background Untranslated regions (UTRs) are important mediators of post-transcriptional regulation. The length of UTRs and the composition of regulatory elements within them are known to vary substantially across genes, but little is known ab

Externí odkaz: https://doaj.org/article/419dbeb079c94514871454c4158e40f1

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Akademický článek

The genome sequence of the Banded Burying beetle, Nicrophorus investigator Zetterstedt, 1824 [version 1; peer review: 3 approved]

Autor: Gavin R. Broad, Ian Barnes, Chris Fletcher, Ashleigh L. Whiffin, Inez Januszczak, Liam M. Crowley

Publikováno v: Wellcome Open Research, Vol 9 (2024)

We present a genome assembly from a female Nicrophorus investigator (Banded Burying beetle; Arthropoda; Insecta; Coleoptera; Silphidae). The genome sequence is 202.3 megabases in span. Most of the assembly is scaffolded into 7 chromosomal pseudomolec

Externí odkaz: https://doaj.org/article/04446602d19f4cb2afb4c22d3771494e

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Report

Correspondence on ACMG STATEMENT: ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG) by Miller et al

Autor: McGurk, Kathryn A., Zheng, Sean L., Henry, Albert, Josephs, Katherine, Edwards, Matthew, de Marvao, Antonio, Whiffin, Nicola, Roberts, Angharad, Lumbers, Thomas R., Regan, Declan P. O, Ware, James S.

Publikováno v: Genet Med. 2022 Mar;24(3):744-746

We were interested to read the recent update on recommendations for reporting of secondary findings in clinical sequencing1, and the accompanying updated list of genes in which secondary findings should be sought (ACMG SF v3.0)2. Though the authors d

Externí odkaz: http://arxiv.org/abs/2203.04684