About Steph Hao

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So far Steph Hao has created 10 blog entries.

May 2023

Convergent coexpression of autism-associated genes suggests some novel risk genes may not be detectable in large-scale genetic studies

By |2023-05-10T15:47:55-04:00May 17th, 2023|Categories: Publication|

Autism spectrum disorder (ASD) is a developmental disorder that affects social interactions and communication. Scientists have discovered that changes in the function of certain proteins due to genetic variations can contribute to the risk of developing ASD. However, understanding how all these genes work together has been challenging. In this study, we analyzed samples from [...]

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Our work on non-invasive prenatal sequencing using cell-free DNA at the AGBT Conference

By |2023-05-10T15:19:29-04:00May 10th, 2023|Categories: Announcements, Conferences|Tags: , |

Chris Whelan shared our work on non-invasive prenatal sequencing using cell-free DNA at the Advances in Genome Biology and Technology (AGBT) meeting in Hollywood, Florida in a flash talk and poster presentation. The conference brings together leading users and developers of the latest technologies in genomics, from both academia and industry. He had some great [...]

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April 2023

Non-invasive exome sequencing to improve prenatal diagnostics presented at the ACMG Annual Meeting

By |2023-05-10T15:19:41-04:00April 19th, 2023|Categories: Conferences, Events|Tags: , |

Michael gave a platform presentation on the lab’s work on non-invasive fetal exome sequencing using cell-free DNA at the annual American College of Medical Genetics (ACMG) annual meeting in Salt Lake City. The meeting brings together leaders in medical genetics and genomics across disciplines. It was an excellent chance to meet with leaders in [...]

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October 2022

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

By |2022-10-31T15:35:41-04:00October 31st, 2022|Categories: Publication|Tags: , , |

The structural variations (SVs) in the non-coding region of 5q14.3 near a gene called MEF2C — a transcription factor, has been linked to neurodevelopmental disorders (NDDs). The paper, published in the American Journal of Human Genetics, is the first to describe the long-range effects of coding and non-coding MEF2C variants in human iPSCs derived neuronal [...]

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Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies

By |2023-05-10T15:13:14-04:00October 5th, 2022|Categories: Publication|Tags: , , |

In this study, we conducted in-depth analyses to evaluate the power of different sequencing technologies, including long-read and short-read whole genome sequencing (WGS), in discovering genomic structural variation (SV). Our study revealed that albeit the over two-fold increase in the power of SV discovery by long-read sequences when compared against short reads, vast majority of [...]

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September 2022

Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

By |2023-05-10T15:13:08-04:00September 30th, 2022|Categories: Publication|Tags: , |

Recurrent and reciprocal copy number variations (CNVs) pose a substantial risk for neurodevelopmental and neuropsychiatric disorders. One example of such CNVs is recurrent deletion and duplication of an ~ 743 kb genomic segment of chromosome 16p11.2, which consists of an ~ 593 kb unique segment encompassing 27 protein-coding genes and an ~ 150 kb flanking [...]

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Introducing Dr. Ryan Collins!

By |2022-09-27T13:19:51-04:00September 27th, 2022|Categories: Announcements|Tags: , |

Introducing Dr. Ryan Collins! Ryan recently received his PhD from Harvard’s Bioinformatics and Integrative Genomics program. His thesis, The Landscape and Consequences of Structural Variation in the Human Genome, represents only a sliver of the work Ryan has accomplished in his nine years as a member of the lab, first joining us as a post-bac and [...]

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A cross-disorder dosage sensitivity map of the human genome

By |2022-10-24T17:04:27-04:00September 23rd, 2022|Categories: Publication|Tags: , |

Large copy number variants (CNVs)—deletions or duplications of more than 100,000 DNA nucleotides—are collectively one of the strongest risk factors for abnormal neurodevelopment. However, interpreting CNVs in clinical genetic practice is challenging due to the lack of standardized resources for predicting the impact of CNVs on individual genes. By harmonizing and jointly analyzing genetic data [...]

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Conferences Are Back! Talkowski Lab at AGBTph

By |2022-09-21T16:17:01-04:00September 21st, 2022|Categories: Conferences, Events|Tags: , , |

The Talkowski Lab attended the AGBT precision health meeting in San Diego. As one of the founding AGBTph members and chair of the organizing committee, Mike helped plan the event and some lab members showcased their work. We first spent the afternoon at a pre-meeting for the Fetal Genomics Consortium, which featured international consortia members and included [...]

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Rare Coding Variation Provides Insight into the Genetic Architecture and Phenotypic Context of Autism

By |2022-10-24T17:03:27-04:00September 7th, 2022|Categories: Publication|Tags: , |

Leveraging genetic sequencing data of the protein-coding portion of the human genome from more than 60,000 individuals, we found 72 genes to be associated with autism spectrum disorder (ASD) at a stringent threshold of less than 0.1% false discovery rate (FDR). The bulk of the evidence for these implicated genes were contributed by de [...]

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