Genomicist, computational biologist. Assistant professor @ MGH, HMS. Associate member @ Broad Institute https://klab.ishttps://bsky.app/profile/konradjk.bsky.socialhttps://bsky.app/profile/konradjk.bsky.social/post/3mlqeubmv6c2m🧬 New preprint! We present an All by All analysis in All of Us: common and rare variant association testing across 392,030 whole genomes and 3,602 phenotypes. 1.337 trillion tests, ~50k significant signals, all publicly browseable. https://www.medrxiv.org/content/10.64898/2026.05.08.26350964v113 May 2026 13:10 +0000at://did:plc:gi62x5kbc7nhtrolf4d3rivf/app.bsky.feed.post/3mlqeubmv6c2mhttps://bsky.app/profile/konradjk.bsky.social/post/3mhxwv7kyzs27Excited to share our new preprint on gnomAD v4! We present the full analysis of 730,947 exomes — new constraint metrics, improved LoF annotation (LOFTEE-2), LLM-based literature curation, and a unified framework for gene discovery and rare disease diagnosis. https://www.medrxiv.org/content/10.64898/2026.03.23.26349081v126 Mar 2026 15:41 +0000at://did:plc:gi62x5kbc7nhtrolf4d3rivf/app.bsky.feed.post/3mhxwv7kyzs27https://bsky.app/profile/konradjk.bsky.social/post/3lz4umnuc6c2zA project many years in the process, we’re pleased to present our work on multi-ancestry meta-analysis across a boatload of traits in the UK Biobank: https://www.nature.com/articles/s41588-025-02335-718 Sep 2025 17:25 +0000at://did:plc:gi62x5kbc7nhtrolf4d3rivf/app.bsky.feed.post/3lz4umnuc6c2zhttps://bsky.app/profile/konradjk.bsky.social/post/3lahmnjlonf2gWe’ve put up summary statistics for over 3,000 traits in the All of Us resource, and a shiny new browser alongside it! Explore your favorite gene or phenotype here: allbyall.researchallofus.org #ASHG24 http://allbyall.researchallofus.org08 Nov 2024 20:32 +0000at://did:plc:gi62x5kbc7nhtrolf4d3rivf/app.bsky.feed.post/3lahmnjlonf2ghttps://bsky.app/profile/konradjk.bsky.social/post/3l4lvul2cy22qWe have a new preprint that we’d love feedback on! We benchmarked a bunch of variant scoring methods to figure out what they were actually doing, and how they performed across selection regimes: https://www.biorxiv.org/content/10.1101/2024.09.17.613327v120 Sep 2024 15:47 +0000at://did:plc:gi62x5kbc7nhtrolf4d3rivf/app.bsky.feed.post/3l4lvul2cy22qhttps://bsky.app/profile/konradjk.bsky.social/post/3l4lvrurr3k2uWelcome new followers (and thanks @michelnivard.bsky.social)! I’m loving the critical mass, and to celebrate, I’ll post some exciting new content (my first time posting here and not on the the other site)20 Sep 2024 15:46 +0000at://did:plc:gi62x5kbc7nhtrolf4d3rivf/app.bsky.feed.post/3l4lvrurr3k2uhttps://bsky.app/profile/konradjk.bsky.social/post/3kkbyslqc6d23As genomic analyses scale to millions of exomes/genomes, we need a scalable infrastructure to process/QC/handle these data while retaining all the metrics needed for downstream analysis. A new preprint from the Hail team proposes a way to do this! Comments welcome: https://www.biorxiv.org/content/10.1101/2024.01.09.574205v131 Jan 2024 15:40 +0000at://did:plc:gi62x5kbc7nhtrolf4d3rivf/app.bsky.feed.post/3kkbyslqc6d23https://bsky.app/profile/konradjk.bsky.social/post/3kfvdq3ukrt2pThrilled to have our work on gnomAD out in print at Nature today. With 76K genomes, we can look beyond the coding genome and into the non-coding genome to find regions important for human disease https://idp.nature.com/authorize?response_type=cookie&client_id=grover&redirect_uri=https%3A%2F%2Fwww.nature.com%2Farticles%2Fs41586-023-06045-006 Dec 2023 17:10 +0000at://did:plc:gi62x5kbc7nhtrolf4d3rivf/app.bsky.feed.post/3kfvdq3ukrt2phttps://bsky.app/profile/konradjk.bsky.social/post/3kfbi3tfukm2zExcited for my first post on this new site to share our work in print at AJHG using variant call data to estimate DNA contamination. As our sample sizes get into the millions of genomes, we need methods like this to efficiently process and quality control the data authors.elsevier.com/c/1i8PAgeX6LB~28 Nov 2023 19:34 +0000at://did:plc:gi62x5kbc7nhtrolf4d3rivf/app.bsky.feed.post/3kfbi3tfukm2z