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Research: Optical genome mapping identifies rare structural variants in neural tube defects
- Nikhil S. Sahajpal,
- Jane Dean,
- Benjamin Hilton,
- Timothy Fee,
- Cindy Skinner,
- Alex Hastie,
- Barbara R. DuPont,
- Alka Chaubey,
- Michael J. Friez,
- and Roger E. Stevenson
Genome Res. April 2025 35: 798-809; Published in Advance March 19, 2025, doi:10.1101/gr.279318.124
...the deleted region included cis-regulatory elements (cCREs), also supported by H3K27 acetylation marks. Additionally, one anencephaly case in our internal database carried a heterozygous deletion of FOXH1. Functional analysis of the human NODAL-signaling pathway has linked FOXH1 with congenital heart defects...
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Method: A general framework for identifying oligogenic combinations of rare variants in complex disorders
- Vijay Kumar Pounraja and
- Santhosh Girirajan
Genome Res. May 2022 32: 904-915; Published in Advance March 17, 2022, doi:10.1101/gr.276348.121
...in an independent cohort of 1878 individuals. These combinations were enriched for nervous system genes such as NIN and NGF, showed complex inheritance patterns, and were depleted in unaffected siblings. We found that an affected individual can carry many oligogenic combinations, each contributing to the same...
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Method: Single-cell Rapid Capture Hybridization sequencing reliably detects isoform usage and coding mutations in targeted genes
- Hongke Peng,
- Jafar S. Jabbari,
- Luyi Tian,
- Changqing Wang,
- Yupei You,
- Chong Chyn Chua,
- Natasha S. Anstee,
- Noorul Amin,
- Andrew H. Wei,
- Nadia M. Davidson,
- Andrew W. Roberts,
- David C.S. Huang,
- Matthew E. Ritchie,
- and Rachel Thijssen
Genome Res. April 2025 35: 942-955; Published in Advance January 10, 2025, doi:10.1101/gr.279322.124
...and indexed single-cell cDNA, which allows analysis to be combined with existing short-read RNA-seq data sets. In our investigation of BTK and SF3B1 genes in samples from patients with chronic lymphocytic leukemia (CLL), we detect SF3B1 isoforms and mutations with high sensitivity. Integration with short...
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Research: Aberrant homeodomain–DNA cooperative dimerization underlies distinct developmental defects in two dominant CRX retinopathy models
- Yiqiao Zheng,
- Gary D. Stormo,
- and Shiming Chen
Genome Res. February 2025 35: 242-256; Published in Advance December 23, 2024, doi:10.1101/gr.279340.124
...with at least three inherited retinal diseases (IRDs) that primarily affect photoreceptors: Leber congenital amaurosis 7 (LCA7; OMIM 613829), cone-rod dystrophy (CoRD) 2 (OMIM 120970), and retinitis pigmentosa (RP; OMIM 268000). CRX-associated retinopathies vary significantly in the ages of onset, severity...
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Research: Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism
- Dale J. Annear,
- Geert Vandeweyer,
- Alba Sanchis-Juan,
- F. Lucy Raymond,
- and R. Frank Kooy
Genome Res. November/December 2022 32: 1967-1980; Published in Advance November 9, 2022, doi:10.1101/gr.277011.122
...that it is known that STRs affect gene expression and that STRs may be a class of expression quantitative trait loci (eQTL) (Willemsen et al. 2011; Fotsing et al. 2019; Bakhtiari et al. 2021), highlights how variable CGG STRs may be primary contributors to oligogenic or complex inheritance, especially in ASD...
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Method: Modeling gene interactions in polygenic prediction via geometric deep learning
- Han Li,
- Jianyang Zeng,
- Michael P. Snyder,
- and Sai Zhang
Genome Res. January 2025 35: 178-187; Published in Advance November 19, 2024, doi:10.1101/gr.279694.124
....View larger version: In this window In a new window Figure 1. An illustrative diagram of PRS-Net. (A) The proposed framework is built upon GWAS summary statistics, including variants, risk alleles, P-values, and effect sizes. (B) A gene–gene interaction (GGI) network is constructed based on the protein...
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Method: Estimation of intrafamilial DNA contamination in family trio genome sequencing using deviation from Mendelian inheritance
- Christopher J. Yoon,
- Su Yeon Kim,
- Chang Hyun Nam,
- Junehawk Lee,
- Jung Woo Park,
- Jihyeob Mun,
- Seongyeol Park,
- Soyoung Lee,
- Boram Yi,
- Kyoung Il Min,
- Brian Wiley,
- Kelly L. Bolton,
- Jeong Ho Lee,
- Eunjoon Kim,
- Hee Jeong Yoo,
- Jong Kwan Jun,
- Ji Seon Choi,
- Malachi Griffith,
- Obi L. Griffith,
- and Young Seok Ju
Genome Res. November/December 2022 32: 2134-2144; Published in Advance December 6, 2022, doi:10.1101/gr.276794.122
...Mix can be applied to detect genomic abnormalities that deviate from Mendelian inheritance patterns, such as uniparental disomy (UPD) and chimerism. A -wide depth and variant allele frequency plot generated by TrioMix facilitates tracing the origin of Mendelian inheritance deviations. We showed that Trio...
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Research: Hybridization drives mitochondrial DNA degeneration and metabolic shift in a species with biparental mitochondrial inheritance
- Mathieu Hénault,
- Souhir Marsit,
- Guillaume Charron,
- and Christian R. Landry
Genome Res. November/December 2022 32: 2043-2056; Published in Advance November 9, 2022, doi:10.1101/gr.276885.122
...in the onset of mitochondrial genetic disease, which is linked to inherited or de novo mtDNA variants (Stewart and Chinnery 2015, 2021; Wallace 2015). Additionally, when diverged populations or species hybridize, heteroplasmy can lead to the coexistence of more or less diverged mtDNAs, which can then interact...
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Research: Autism spectrum disorder risk genes have convergent effects on transcription and neuronal firing patterns in primary neurons
- Alekh Paranjapye,
- Rili Ahmad,
- Steven Su,
- Abraham J. Waldman,
- Jennifer E. Phillips-Cremins,
- Shuo Zhang,
- and Erica Korb
Genome Res. November 2025 35: 2433-2444; Published in Advance October 20, 2025, doi:10.1101/gr.280698.125
...outcomes.We previously tested the effects of disrupting a set of ASD risk genes that function as chromatin regulators and found that they affected expression of a common set of genes that encode synaptic proteins (Thudium et al. 2022). This gene expression signature was detected in multiple systems and...
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Research: The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome
- M. Reza Sailani,
- Periklis Makrythanasis,
- Armand Valsesia,
- Federico A. Santoni,
- Samuel Deutsch,
- Konstantin Popadin,
- Christelle Borel,
- Eugenia Migliavacca,
- Andrew J. Sharp,
- Genevieve Duriaux Sail,
- Emilie Falconnet,
- Kelly Rabionet,
- Clara Serra-Juhé,
- Stefano Vicari,
- Daniela Laux,
- Yann Grattau,
- Guy Dembour,
- Andre Megarbane,
- Renaud Touraine,
- Samantha Stora,
- Sofia Kitsiou,
- Helena Fryssira,
- Chariklia Chatzisevastou-Loukidou,
- Emmanouel Kanavakis,
- Giuseppe Merla,
- Damien Bonnet,
- Luis A. Pérez-Jurado,
- Xavier Estivill,
- Jean M. Delabar,
- and Stylianos E. Antonarakis
Genome Res. September 2013 23: 1410-1421; Published in Advance June 19, 2013, doi:10.1101/gr.147991.112
...The complex SNP and CNV genetic architecture of the increased risk of congenital heart defects in Down syndrome M. Reza Sailani 1 , 2 , Periklis Makrythanasis 1 , Armand Valsesia 3 , 4 , 5 , Federico A. Santoni 1 , Samuel Deutsch 1...

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