https://www.samochalab.org/people daily 0.75 2026-01-06 https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/e6cf4a14-b5ec-4b77-b61c-e44862840501/stats_headshot.jpeg People - Nikolas Baya, D.Phil. Postdoctoral Fellow Nikolas is a postdoctoral research fellow at the Center for Genomic Medicine at Massachusetts General Hospital. He completed his DPhil in Genomic Medicine and Statistics at the University of Oxford, advised by Prof. Cecilia Lindgren and Dr. Duncan Palmer. His doctoral research investigated the impact of rare variation on extreme and unexpected phenotypes in the UK Biobank. Highlights of this work include combining rare variant and functional evidence to discover new therapeutic targets for obesity and developing methods to analyze individuals whose phenotypes deviate from polygenic predictions. Prior to his graduate studies, Nikolas was a Computational Associate in the Neale Lab at the Broad Institute of MIT and Harvard. Nikolas holds an Sc.B. in Applied Mathematics with Honors from Brown University. https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/1665176495548-1STK0U5DIT9LTYQWDER1/IMG_3836.jpg People - Katherine Chao Product Manager, gnomAD Translational Genomics Group https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/30b8f32d-cd06-42e0-87a2-77901084508b/mackenzie.jpg People - Mackenzie Simper, Ph.D. Mackenzie was a postdoctoral researcher through the Eric and Wendy Schmidt Center at the Broad Institute. She is currently in medical school at Washington University School of Medicine. https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/1665419606046-J1EAWF9HSGW2RGBGY15K/EMW_headshot2+copy.jpg People - Emilie Wigdor, Ph.D. Graduated Ph.D. Student https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/6fed4b00-8c5c-45f1-b97a-d2f0c30991bd/Rachel_Ungar.png People - Rachel Ungar, Ph.D. Postdoctoral Fellow Dr. Rachel Ungar is a postdoctoral research fellow at the Center for Genomic Medicine at Massachusetts General Hospital. Rachel completed her Ph.D. in Genetics at Stanford University working with Stephen Montgomery where she explored the impact of genome build on RNA-seq, identified transcriptomic outliers in rare disease for the GREGoR and UDN consortia, and evaluated the transcriptomic impact of rare variants and sex on the X-chromosome. She then worked as a postdoctoral fellow at the Stanford Center for Biomedical Ethics exploring the ethical implications of multiomic technologies and return of multiomic results with a focus on rare genetic disorders. https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/4dc7fc1c-42d0-4e1b-a3cb-96ecf7be8463/42655585-c598-4e63-a4f9-726d54968f98.jpg People - Ruchit Panchal, M.S. Computational Associate Ruchit is a Computational Associate II at the Broad Institute. He completed his Master's degree in physics at University of Massachusetts: Lowell. His thesis was in computational astronomy where he developed binary star model to predict absorption in X-Ray light curves. He joined the realm of genetics research at Beth Israel Deaconess Medical Center (BIDMC), followed by 3 years at the Broad Institute where he developed analysis approaches for Illumina amplicon sequencing data and building bioinformatic analysis pipeline that support diverse projects. He is fond of understanding natural processes in the language of mathematics and statistics and is excited to apply the same in the world of human genetics. His other interests include science fiction, hiking, and traveling. https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/1665177307828-I6OIUGMA853W41WO0EA9/image+%281%29.png People - Lily Wang Ph.D. Student Talkowski lab https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/1665418947078-59W176YJWA4I3GY7SZDY/JingZhang_jpg.jpg People - Jing Zhang, Ph.D. Postdoctoral Fellow Robinson lab https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/15b77855-bcb9-48f8-bded-ed6e312dd584/DSC08579.jpg People - Yitang Sun, Ph.D. Postdoctoral Fellow Yitang Sun is a postdoctoral research fellow at the Center for Genomic Medicine at Massachusetts General Hospital. He completed his Ph.D. in Genetics at the University of Georgia. His dissertation focused on leveraging genetic data to unravel the health effects of polyunsaturated fatty acids, significantly advancing our understanding of their roles in diseases such as COVID-19, brain disorders, and dyslipidemia. Additionally, Yitang earned an M.P.H. in Biostatistics from the University of Florida and a medical degree in Clinical Medicine from Henan University in China. His current work integrates functional and structural genomic data to improve the interpretation of missense variants, with the goal of refining models of selective constraint and enhancing diagnostic precision across a range of human diseases. https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/d1a11bed-d2be-4959-9464-be18f5d5ad27/Kaileigh_Ahlquist_picture.jpg People - Kaileigh Ahlquist, Ph.D. Kaileigh was a Computational Scientist at the Broad Institute. They were a lead analyst on the Talos project. https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/2bfd5897-faa6-4dd5-a9b3-d4b092fc5fc7/julia_goodrich.jpg People - Julia Goodrich, Ph.D. Computational Scientist Julia is a computational biologist developing methods for quality control and analysis of large-scale genomic datasets including the Genome Aggregation Database (gnomAD) and UK Biobank. She was previously a postdoctoral fellow in the MacArthur lab researching incomplete penetrance in monogenic metabolic conditions. Julia is a core member of the gnomAD production team, but also spends some of her time pursuing research projects. https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/1626124808099-RCBB1M8EX9QSCMNDBL8W/KaitlinSamocha_headshot_2021.jpeg People - Kaitlin Samocha, Ph.D. Principal Investigator Kaitlin Samocha is an Assistant Professor in the Center for Genomic Medicine at Massachusetts General Hospital and Harvard Medical School. She is on the steering committee for the Genome Aggregation Database (gnomAD), one of the world’s largest publicly available collections of human genetic variation data, and is part of the Translational Genomics Group at the Broad Institute. The focus of her research career has been on developing methods and statistical tools to improve interpretation of genetic variation, particularly rare variation. She created a mutational model to predict the expected number of newly arising (de novo) variants that has been leveraged to associate dozens of genes with autism spectrum disorders, congenital heart disease, and schizophrenia, among others. As a way to aid variant interpretation, Kaitlin developed metrics to measure a gene’s tolerance to mutational changes, including the pLI score that was used to identify thousands of genes intolerant to loss of a single functional copy. Additionally, she led an international consortium studying developmental disorders and identified ~300 significantly associated genes, including 28 that had not been robustly tied to these disorders. Kaitlin received her A.B. in Biological Sciences with Honors and Phi Beta Kappa in 2010 from the University of Chicago, and her Ph.D. in Genetics and Genomics in 2016 from Harvard University. She trained as a postdoctoral fellow at the Wellcome Sanger Institute and was a College Research Associate at St. John’s College, Cambridge. Twitter/X/Bluesky: @ksamocha Email: samocha[at]broadinstitute.org / ksamocha[at]mgb.org https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/1665504672233-LP59U0OX557HHOAM2YC8/image+%282%29.png People - Kartik Chundru, Ph.D. Kartik Chundru, Ph.D. Postdoctoral Fellow Martin group https://www.samochalab.org/join daily 0.75 2025-04-28 https://www.samochalab.org/research daily 1.0 2023-02-13 https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/1635884264930-TVJS6GNRLVRK6X0E69KM/constraint_image.jpg Research - Identifying constrained genomic regions https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/1635949914042-JPCA9SY2O3Z641QSB60C/final_dnm_weights_enrichment.jpg Research - Improving variant interpretation https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/1635887195490-GPLI7W479QJQ9SJCILBZ/trio_image.jpg Research - Associating rare variation with disease https://www.samochalab.org/publications daily 0.75 2025-07-30 https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/1635960863589-JR14L9MUR3JL1B67I9QX/Fig1_Neale_2012.png Publications - Patterns and rates of exonic de novo mutations in autism spectrum disorders Neale BM, Kou Y*, Liu L*, Ma'ayan A*, Samocha KE*, Sabo A*, Lin CF*, Stevens C, Wang LS, Makarov V, Polak P, Yoon S, Maguire J, Crawford EL, Campbell NG, Geller ET, Valladares O, Schafer C, Liu H, Zhao T, Cai G, Lihm J, Dannenfelser R, Jabado O, Peralta Z, Nagaswamy U, Muzny D, Reid JG, Newsham I, Wu Y, Lewis L, Han Y, Voight BF, Lim E, Rossin E, Kirby A, Flannick J, Fromer M, Shakir K, Fennell T, Garimella K, Banks E, Poplin R, Gabriel S, Depristo M, Wimbish JR, Boone BE, Levy SE, Betancur C, Sunyaev S, Boerwinkle E, Buxbaum JD, Cook EH, Devlin B, Gibbs RA, Roeder K, Schellenberg GD, Sutcliffe JS, Daly MJ. Nature 2012 doi: 10.1038/nature11011 * contributed equally https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/29727a77-4d14-40c1-8288-49b7fc6fa41f/Guo_Francioli_Fig1 Publications - Inferring compound heterozygosity from large-scale exome sequencing data Guo MH*, Francioli LC*, Stenton SL, Goodrich JK, Watts NA, Singer-Berk M, Groopman E, Darnowsky PW, Solomonson M, Baxter S, gnomAD Project Consortium, Tiao G, Neale BM, Hirschhorn JN, Rehm HL, Daly MJ, O’Donnell-Luria A, Karczewski KJ, MacArthur DG, and Samocha KE. Nature Genetics 2024 doi.org/10.1038/s41588-023-01608-3 * contributed equally https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/1635960265952-L5ZSSPYM91YUUXEJ73ZP/Fig2_Zhang_2018.jpg Publications - Base-specific mutational intolerance near splice sites clarifies the role of nonessential splice nucleotides Zhang S, Samocha KE, Rivas MA, Karczewski KJ, Daly E, Schmandt B, Neale BM, MacArthur DG, Daly MJ. Genome Research 2018 doi: 10.1101/gr.231902.117 https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/1626191575843-MAN6ZJG4L5IO1SBQH8AO/Fig2_samocha_2014 Publications - A framework for the interpretation of de novo mutation in human disease Samocha KE, Robinson EB, Sanders SJ, Stevens C, Sabo A, McGrath LM, Kosmicki JA, Rehnström K, Mallick S, Kirby A, Wall DP, MacArthur DG, Gabriel SB, dePristo M, Purcell SM, Palotie A, Boerwinkle E, Buxbuam JD, Cook EH, Gibbs RA, Schellenberg GD, Sutcliffe JS, Devlin B, Roeder K, Neale BM, Daly MJ. Nature Genetics 2014 doi: 10.1038/ng.3050 https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/1626190811715-D8ERS7TTQ4R2OR3F01IE/Figure3_kaplanis_samocha_wiel_zhang.jpg Publications - Evidence for 28 genetic disorders discovered by combining healthcare and research data Kaplanis J*, Samocha KE*, Wiel L*, Zhang Z*, Arvai KJ, Eberhardt RY, Gallone G, Lelieveld SH, Martin HC, McRae JF, Short PJ, Torene RI, de Boer E, Danecek P, Gardner EJ, Huang N, Lord J, Martincorena I, Pfundt R, Reijnders MRF, Yeung A, Yntema HG, Deciphering Developmental Disorders Study, Vissers LELM, Juusola J, Wright CF, Brunner HG, Firth HV, FitzPatrick DR, Barrett JC, Hurles ME, Gilissen C, Retterer K. Nature 2020 doi: 10.1038/s41586-020-2832-5 * contributed equally https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/1626191500767-IWAB1BLVJ7XO062B5HI8/Fig3_lek_2016 Publications - Analysis of protein-coding genetic variation in 60,706 humans Lek M, Karczewski KJ*, Minikel EV*, Samocha KE*, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano-Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-Luna MT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG; Exome Aggregation Consortium. Nature 2016 doi: 10.1038/nature19057 * contributed equally https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/0d3fa192-db50-4cc2-bc40-e360e7f253a0/RMC_fig3.png Publications - The landscape of regional missense mutational intolerance quantified from 125,748 exomes Chao KR*, Wang L*, Panchal R, Liao C, Abderrazzaq H, Ye R, Schultz P, Compitello J, Grant RH, Kosmicki JA, Weisburd B, Phu W, Wilson MW, Laricchia KM, Goodrich JK, Goldstein D, Goldstein JI, Vittal C, Poterba T, Baxter S, Watts NA, Solomonson M, gnomAD consortium, Tiao G, Rehm HL, Neale BM, Talkowski ME, MacArthur DG, O'Donnell-Luria A, Karczewski KJ, Radivojac P, Daly MJ, Samocha KE. bioRxiv 2024 doi.org/10.1101/2024.04.11.588920 * contributed equally https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/3230cba3-47a7-4387-8b2f-729a1b11c3bc/Talos_fig4c.png Publications - Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts Welland MJ*, Ahlquist KD*, De Fazio P*, Austin-Tse C, Pais L, Wedd L, Bryen S, Rius R, Franklin M, Morrison C, Hall G, Gauthier L, Bloemendal A, Francis DI, Mallett AJ, Mallawaarachchi A, Lockhart PJ, Leventer R, Scheffer IE, Howell KB, Kassahn KS, Scott HS, McGaughran J, Christodoulou J, Thorburn DR, Thompson BA, Patel CV, Smith G, O’Donnell-Luria A, Sadedin S, Rehm HL, Lunke S, Wander J#, Samocha KE#, Simons C#, MacArthur DG#, Stark Z#. medRxiv 2025 doi.org/10.1101/2025.05.19.25327921 * contributed equally # co-last authors https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/1635960175137-U29C3J20D73UDSVX1YQL/Fig3_Kosmicki_2017.png Publications - Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples Kosmicki JA, Samocha KE, Howrigan DP, Sanders SJ, Slowikowski K, Lek M, Karczewski KJ, Cutler DJ, Devlin B, Roeder K, Buxbaum JD, Neale BM, MacArthur DG, Wall DP, Robinson EB, Daly MJ. Nature Genetics 2017 doi: 10.1038/ng.3789 https://images.squarespace-cdn.com/content/v1/60ecad5743af5d4b5ba11126/8d90097f-9070-4315-b758-408d5f985074/samocha_ddd_figure1.png Publications - Substantial role of rare inherited variation in individuals with developmental disorders Samocha KE, Chundru VK, Fu JM, Gardner EJ, Danecek P, Wigdor EM, Malawsky DS, Lindsay SJ, Campbell P, Singh T, Eberhardt RY, Gallone G, Wright CF, Martin HC, Firth HV, Hurles ME. medRxiv 2024 doi.org/10.1101/2024.08.28.24312746