Results 131 to 140 of about 122,027 (274)

Identity-by-descent filtering of exome sequence data for disease–gene identification in autosomal recessive disorders [PDF]

, 2011
Christian Rödelsperger, Peter Krawitz, Sebastian Bauer, Jochen Hecht, Abigail W. Bigham, Michael J. Bamshad, Birgit Jonske de Condor, Michal R. Schweiger, Peter N. Robinson   +8 more
openalex   +1 more source

MTSS2‐Related Disorder: Refining the Phenotype in Four New Cases and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT MTSS2 encodes a protein highly expressed in the central nervous system, with a crucial role in neurodevelopment. The de novo recurrent variant c.2011C>T (p.Arg671Trp) was first identified in 2022 as cause of Intellectual Developmental Disorder with ocular anomalies and distinctive facial features (OMIM#620086).
Angela De Dominicis, Francesca Piceci Sparascio, Fabrizia Stregapede, Alessandra Terracciano, Daniela Verrigni, Francesca Romana Lepri, Sarah Cetola, Maria Lisa Dentici, Federico Vigevano, Antonio Novelli, Nicola Specchio, Marina Trivisano, Maria Cristina Digilio   +12 more
wiley   +1 more source

Genetic diagnosis by whole exome capture and massively parallel DNA sequencing

, 2009
Murim Choi, Ute I. Scholl, Weizhen Ji, Tiewen Liu, Irina R. Tikhonova, Paul Zumbo, Ahmet Nayır, Ayşı̇n Bakkaloğlu, Seza Özen, Sami A. Sanjad, Carol Nelson‐Williams, Anita Farhi, Shrikant Mane, Richard P. Lifton   +13 more
openalex   +1 more source

High-performance single-chip exon capture allows accurate whole exome sequencing using the Illumina Genome Analyzer [PDF]

, 2011
Tao Jiang, Lei Yang, Hui Jiang, Geng Tian, Xiuqing Zhang   +4 more
openalex   +1 more source

Elucidating the Molecular Landscape of Cystic Kidney Disease: Old Friends, New Friends and Some Surprises

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cystic kidney diseases (CyKD) are a diverse group of disorders affecting more than 1 in 1000 individuals. Over 120 genes are implicated, primarily encoding components of the primary cilium, transcription factors, and morphogens. Prognosis varies greatly by molecular diagnosis. Causal variants are not identified in 10%–60% of individuals due to
Deborah Watson, Frank Mentch, Jonathan Billings, Kayleigh Ostberg, Michael E. March, Jennifer M. Kalish, Dong Li, India Cannon, Lisa M. Guay‐Woodford, Erum Hartung, Alanna Strong   +10 more
wiley   +1 more source

ВАРИАНТЫ В ГЕНАХ ДЛИННЫХ НЕКОДИРУЮЩИХ РНК ПРИ ПАРАГАНГЛИОМАХ ГОЛОВЫ И ШЕИ

Journal of Bioinformatics and Genomics
Геномы опухолевых клеток имеют большое число генетических вариантов, которые включают как мутации-драйверы, так и нейтральные мутации-пассажиры. Идентификация драйверных нарушений является важным этапом на пути к пониманию механизмов злокачественной ...
Снежкина А.В., Калинин Д.В., Федорова М.С., Павлов В.С., Ланцова М.С., Головюк А.Л., Аюпова А.Ф., Кудрявцева А.В.   +7 more
doaj   +1 more source

Combining effects from rare and common genetic variants in an exome-wide association study of sequence data [PDF]

, 2011
Hugues Aschard, Weiliang Qiu, Bogdan Paşaniuc, Noah Zaitlen, Michael H. Cho, Vincent J. Carey   +5 more
openalex   +1 more source

Possible wormholes in $f(R)$ gravity sourced by solitonic quantum wave and cold dark matter halos and their repulsive gravity effect [PDF]

arXiv
In this paper, we present new generalized wormhole (WH) solutions within the context of $f(R)$ gravity. Specifically, we focus on $f(R)$ gravitational theories formulated in the metric formalism, with our investigation centered on a power-law form represented by $f(R) = \epsilon R^{\chi}$. Here, $\epsilon$ is an arbitrary constant, and $\chi$ is a real
arxiv  

Detecting the Difficult: An Intronic NPC1 Variant Hiding in Plain Sight

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT An illustration of the importance of manual data review for identifying rare intronic variants adjacent to homopolymers is presented here. A 14‐year‐old male with Niemann‐Pick Type C disease confirmed biochemically was only found to have a heterozygous pathogenic variant by molecular analysis. A manual review of the Next Generation Sequencing (
Caroline Gully Brown, Matthew Bower, Matthew Schomaker, Jessica Goldstein, Jeanine Jarnes, Chester B. Whitley, Nishitha R. Pillai   +6 more
wiley   +1 more source

Search for compound heterozygous effects in exome sequence of unrelated subjects [PDF]

, 2011
G. Bryce Christensen, Christophe G Lambert   +1 more
openalex   +1 more source